Early male and female footprints of modern humans across Eurasia and Australasia
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Abstract
ABSTRACT As an alternative to a recent coastal southern route followed by modern humans to colonize Eurasia after an Out of Africa around 60 Kya, and under the premise that the evolutionary rate based coalescent ages slowdown going backwards in time, I propose a new model based on phylogenetic and phylogeographic analyses of uniparental markers in present and past modern human populations across Eurasia and Australasia. The archaeological record favors a northern route that reached China around 120 kya and then descended latitudinally reaching Southeast Asia and islands around 70-60 kya. These ages coincide with the basal split of the mtDNA macrohaplogroup L3’4* and the origin of the Y-chromosome macrohaplogroup CT* and the subsequent splits in Eurasia of mtDNA haplogroups M and N and Y-chromosome C, D and F clades respectively. Roughly at the same time modern humans arrived in Australasia other groups retreated southwest returning to Africa carrying with them mtDNA L3 and Y-Chromosome E lineages. Southeast Asia and Southwest-Central Asia were the subsequent demographic centers for the respective colonization of East and northern Asia and Europe. Across the Ganges-Brahmaputra and the Indus valleys, South Asia was colonized from both migratory centers.
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Introduction
49
The origin of mod ern h uman s in A frica ro ughly 2 00 Kya and thei r exit from t hi s contin en t 50
approxima tely 6 0 kya , with sub sequ ent r api d s p rea d ac ro s s Eura s i a follow ing a so uthe r n rout e, 51
was hyp ot h e s ized ba sed on mt DN A phy l ogeny 1–3 a nd phyl ogeog r a phy 4,5 . This model h a s be en 52
s ub st anti all y co r robo rat ed by Y-c hr omo some 6 and wh ole ge nome 7,8 stud ie s. How eve r , t h i s 53
genetic vie w is in st rong c ontrad ictio n w ith the mod e l deduc e d fr om the huma n f ossil a nd 54
archae ol ogic al rec ord s. An o r ig in o f mod e r n human s in nor thwe st A fric a around 3 00 Kya ha s 55
been pro po sed un d er arch ae ologic al 9 a n d phylo genetic 10 ground s . An e arly out o f Af r i ca o f 56
modern huma n s be t w een 90 and 1 30 ky a has s t rong s upp ort in t h e Ne ar Ea st re mains 57
unear thed in Skhul and Q afz eh 11 . The p o ssible e xit of t his for ay i nt o Eura si a is fur the r 58
s upp o r t ed b y the pr e sence in the sou the rn Chine se r egion s o f Zhiren 12 a nd Fuy an 13 of modern 59
human fo s s i l s dat ed be twe en 80 and 113 kya . Although th e auth entici t y of th e se a ge s w a s 60
que st i on ed 14 they w ere r ea ffirm ed by a st r on g reply 15 . F urthe r mo re, t he C hine se ages a re 61
congr ue nt with a sub s equen t southwa rd spr ead t o m ainlan d Sou the as t A s i a an d I sla nd 62
Southe a st A s i a whe r e fo ssil an d archa e ol ogic al da te s a re young er bu t still int o thi s early 63
m i gr a t i o n fr a m e. T h u s, m o d e r n h u man re m a i ns h a ve b e e n r e c e nt l y d a te d ar o und 8 0 K ya a t t h e 64
Tam Pà Li ng site in n orth ern L ao s 16 , r oughly a t 68 Kya at L ida Ajer in Sumatr a 17 , perhap s a t 6 5 65
kya in Cal lao Ca ve , i n the Phili ppin e s 18 , and de duced f rom A rc h aeologica l evid enc e around 65 66
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kya at Madjed beb e in northe rn Au stra lia 19 . Howe ver, ba sed o n the coa l e scent a ges ob tain ed 67
for di ff ere nt Eura s i an line age s u sing fo s s i l-cal ibra t e d human evoluti ona r y ra te s , t h e gene t i ci s t s 68
us ua lly c on side r any human d i s pe rs al i n Eurasi a ea rli er t h an 60 k ya as gen etic ally uns u cce ss ful 69
event s whi ch did not con tribu ted t o the pr e s en t-d ay human gene tic pool 8 , b ut it s hou ld b e 70
t a ken i nto acc ount that ther e i s s t i ll no u na nimou s ac cept anc e o f w hat muta tion r ate should 71
be app lica ble in e ach ca se for th e e stima tion of t he evol u t i on ary rat e 20,21 and tha t a strong 72
t i me- depe nde n t ef fec t ha s be e n det ect e d on the huma n evol u t i ona ry rat e 22 , most p robably 73
due to c hange s in t he e f fectiv e pop ula ti o n s i z e 23 sh owi ng ev olutiona ry rat e s sl ower tha n the 74
us e d mean f or P a leoli thic time s and fa s t er than the me an fo r rec en t hi st o ric time s 24 . U nde r 75
t h e s e , more pe rmis s iv e ge n etic g r ou n ds, a more c oncili at or y model, ba s ed on th e p hyloge ny 76
and phy log eogr a phy o f u nipar ent al gene tic marker s, ha s b een pr o po sed rec en tly t o expla in th e 77
poten tial e volu tiona ry and mi grato r y pro ces s e s o f m ode rn human s ac ro ss th e A fri can 78
continen t 24 c ontinuing out s id e o f A frica a nd into th e M i ddl e Ea st aro und 120-130 K ya 25 , 79
whic h harmonic ally integra te the unipa r ental gen etic da ta w ith th e f os s il a nd arc haeolog ica l 80
r e cord s . In thi s s tudy we ext end thi s mod el to expl ain t he e a rly spr ead o f m ode rn humans 81
acro ss Eura s ia and i n t o Nea r O c eania an d Aus tr a li a trying to d emon stra t e t h a t th e time s and 82
human mo vement s deduc ed f rom the m tDNA and Y-c h r om o s ome phylogeni e s an d 83
phylogeog raphie s a r e compa t i ble w it h t h e human pr e hi storic pa th une a r th ed by t he 84
A r ch a e ol ogy . 85
Material and methods
86
The usefulness of the uniparental markers : W e are working with uni pa ren tal g e n etic ma r k er s, 87
whic h hav e been put ou t o f fa shio n unde r the a ssumpti on t ha t t h e y are j u s t single loci, and 88
t h at t h e hi sto r y of a singl e gen e t i c loc u s can diff er fr om t h a t o f a popul a tion ju st beca u s e o f 89
chan ce or selec tion. H owev er, the unip a re ntal mark e r inhe rita nce i s dif fer ent fr o m t h at o f the 90
auto s o mal poly mor phi s m s. T o begi n wit h, the au to s ome s o f a ny in dividua l ar e a mixture of the 91
auto s o me s o f t h e ir pa ren ts w hic h, in t ur n, are m ixtur es o f th e au to some s o f thei r respe ctive 92
paren t s fol lowing, bac kwa r d s in t i me, an increa sing pr ogre s si on of 2 n w here n i s th e number o f 93
pas t gene ratio ns . In c on tr a st, th e u nipar ental m ark er s h ave a line a l tr an s mi ssio n from f ath er to 94
s on o r mot h e r t o daugh ter . Du e to r ec o mbination , gen e s f rom auto s ome s ca n h ave quite 95
diff er ent gen ea logic al hi s t orie s bu t thi s i s n ot t he ca s e fo r uni par ent al ma r k ers . In de ed, y ou 96
can follow a line a l tra ns m i ssion for a s ingle auto soma l marker, bu t yo u can no t e s t abl is h a 97
consi ste nt gen ea logic al tre e w it h th ese s i ng le v ariant s . O n th e contr ary, c omparin g t w o mtDN A 98
or Y-chromo som e s equenc e s it i s po ssibl e to ob tain a s imp le t ree b ranc h whe re o n the 99
common t runk are pl a ced th e s h a r e d var iant s and, on eac h branc h , the p artic ul ar 100
polymorphism s o f eac h seq uenc e . Thi s p hy logen etic struc ture can be ex te nded u sing samp le s 101
of th e s ame an d / or di ff er ent popu latio ns s o t h a t you c an obt ai n s uc ce s sive c ommon a nce sto rs 102
for some o f th em tha t rep re s e n t put ativ e rea l indiv idual s no t jus t gene vari an ts. The se 103
genea logic al t ree s a re t he f oun da tion f or s tudi e s o f mal e a nd f emal e migra tion s f r om diff eren t 104
r e gion s at di ff er ent tim e s. In a d dition , th e geographi c struc ture ob s e r v e d wi t h uni paren tal 105
marker s allow s the id enti fic a tion o f wi de and s ma ll phy log eograp hic range s for th ei r clade s 106
and subcl ade s, s o me cor rela ted wit h sp e ci fic ethni c group s an d even with ind ivid ua l 107
genea logie s . A po ten t i a l we akne s s o f the s e no n- recombi ning ma r k e rs i s that they only t rac e 108
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ance s tor s who ha ve l e ft of f spring o f th e same s e x. Overall , unipar ental ma rker s shoul d 109
continue t o be u sed in d emographi c stud ies in c ombina tion with a uto somal ma rker s . 110
Molecular evolutionary rate and number of mutations per lineage: I n thi s s tudy we a r e 111
deali ng wi t h t h e earli e st pe riod o f th e hu man e xpansio n a cro ss Eura sia . To co pe wi t h t he time -112
depend e nce e f f e ct ob s erved f or th e hum a n mtDNA ev oluti onary r a t e 22 , an em piri cal 113
algorithm de n ominat ed “com pound rho” was propo s ed 26 . In it th e r e la tive numb er of 114
ance s tor s b etwe en c on secutiv e co a le sce nt pe r io d s in a tre e (i /i+1 ) w as u sed a s a mea s u re for 115
populati on s i ze fluc tua tion s be tween con sec u t i ve c oale sce n t pe r i od s , bu t pending of an 116
automa ted c alc ula tor , the ap p lica t i o n of this algorithm i s la bo riou s . How ever, i t h as be en 117
obse r v ed th at t he ol de st c oale sc e nt pe ri ods in a tre e a cc ount for mo s t of t he t im e and gene tic 118
variabi lity of the whole t re e 27 . T hus , t h e mean value of a time -de p enden t ev olu ti onary r a te 119
s hou ld b e fo und within th os e de e p peri o ds. An indi r e c t proo f in f av or o f thi s sugg estion i s t h e 120
fact t hat shall o w ca librati on s on a tree p rod uce un der e s tima t e d coa l e s c en t age s 28 . More ov er, 121
by c omparing ancie nt mt D NA s equenc es from di ffe r e n t tim e p eriod s with c ur r e n t s eq ue nce s 122
fr om t h e sa me hapl ogroup a sig n ifica nt s low down of the ob s e r v ed ev olution ary r ate c ompar ed 123
t o t h e exp ected from a con s tan t rat e wa s f ound 23 . Thus, a t th e pe r io d around 40 kya, the rat e 124
betwee n t h e ob s erved a nd expe cted v al ues wa s 0 .44 . Thi s r e sult i s clo se t o the m inimum v alue 125
(0.50) o btain ed by dividin g the numb er o f ance s t or s o f t w o co n s ec utive p eriod s ( i / i+1 ) . 126
There for e, w hen th ere a re n o t mor e elab orat ed calc ulati on s, a n empi ric al e stima ti on for the 127
mean v alue of t h e evo lu tiona ry rat e of o ne sp ecie s c ould be a h al f o f th e muta tio n rate in the 128
s a me sp ecie s. In t h e ca se of the human mtDN A r e lia ble germlin e muta tion ra te s have been 129
publish ed 21,29 , gi ving a co ns en su s ave ra ge of 1 .60 x 10 -8 (95% CI: 0.3 0 - 5.34 x 10 -8 ) mutati on s 130
per s i t e p er yea r (m sy). How eve r, A pe di gree ba s ed hum an mtD NA mut ation rat e wa s r ec e ntly 131
cal culated givi ng a higher v alue (5. 8 x 10 -8 (95% CI: 3.1 – 10.8 x 10 -8 )) 30 than t h o se c alc ulated 132
pr e viou sly. Cu r i ou s ly , thi s muta tion r at e ov erlap s with th e evoluti ona r y ra te ob tai ne d fo r 133
r e cen t his torical h uman p opula tion s (4 .3 3 x 10 -8 (95% CI: 3.72 – 4.82 x 10 -8 )) 23 . Thus, a me an of 134
t h e s e t hre e valu e s w a s use d to es t i mat e the mea n evol ut i on ary rat e, giving a v alue o f 1.50 x 135
10 -8 (95% CI: 0. 42 - 9 .07 x 10 -8 ) ms y which wa s u s ed to calc ulat e a ll th e mtD NA ha plogr oup 136
coal e s c enc e age s. In addi tion, i t was als o obse rved 23 that p a st de mogra phic fac to rs a s gen etic 137
dr i ft, bottle n eck s a n d foun der e f fec ts te nd to d iminis h the p re sen t -day h aplogro up g enetic 138
diversi ty. A s a pr ac tical app roac h to co rr ect fo r the s e e ff ec ts, w e hav e u se d her e the mo s t 139
diverge nt lin eag e s within h apl ogroup s to ca lcul ate th eir co al e scent a g e s. 140
The most u s ed muta tion ra te s for t he Y-c hr o mo s ome coa l es c ent age e st i ma tion s are, 1.0 x 10 -9 141
(95% CI : 0.3 x 10 -9 – 2.5 x 10 -9 ) msy 31 and 8.71 x 10 -10 (95 % CI: 8.03 – 9.43 x 10 -10 ) msy 32 . 142
H ow eve r , a s in th e c ase o f the mt DNA, a nd con f i r mi ng th e time -de p ende nc e e ff e ct o n the Y -143
chromos ome ev oluti onary r a t e t oo , coa l esc enc e age s slow down upw ard s in time w hen using 144
anci ent DN A c alib ra tion 33 . T hus , followi n g the s ame rule o f th umb as for the mt D N A, a mea n 145
Y-chromo some mut atio n r a te was c alcu l ated (0.94 x 10 -9 (95% CI: 0.46 – 1.89 x 10 -9 ) ms y ) and, 146
aft er halvi ng (0 .47 x 10 -9 (95% CI: 0.21 – 0.95 x 10 -9 ) ms y ) , it was u s ed he re a s a p utative me an 147
evolutio na ry rat e to c alcu la te c oal e scent a ges o f th e Y-c hrom osome main h aplog r oups . 148
Samples : In t hi s study w e u sed publ i shed comple t e mitogenome s a nd Y -Ch romo s ome 149
haplotyp e s o b t a in ed f rom the foll owing databa s e s: NC BI G e n Bank 150
( www .ncbi .nlm.nih.gov /g enba nk / , ( acc e ssed o n 30 June 2023) ), Mi tomap 151
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( www .mitomap.o rg/M ITOMAP , (acc e s s e d on 30 June 2023) ), Ia n Logan 202 3 152
( www .ianlo gan.c o .uk/ s e q uence s_by _gro up/hapl og r oup_ sel ect .htm ,( a cc es ed o n 3 0 J u n e 153
2023)) an d Am t DB ( ww w . ht t p: // amt db . or g , (ac ce s s e d on 30 Jun e 2023) ) f or mtD NA a nd the 154
ISOGG da ta ba se ( http://www.isogg.org/tree/ ,(ac ce ssed on 3 0 Jun e 202 3) ) fo r Y-chr omosom e. In 155
addition , publi shed sampl es from r ef ere nce s l i s t ed in th e su ppleme n t a r y in forma tion w ere 156
also a nal yzed . 157
Ph y l og e n y : Mitochond rial DNA and Y -chromo s ome ph y logenet ic t rees wer e 158
con str uc t ed by hand u s ing th e m edian-joining network met hod 34 . Mitoch ondr ial D NA 159
haplogr oup nomenclatur e wa s ac c or ding to PhyloTree dat abas e Building 1 7 ( 160
ht tp:// www.ph ylotr ee.org , (ac c e ssed on 30 June 2023) 35 . Y-chrom os om e h a p l o group 161
no mencl at ure was ac cording to IS O GG databa se ( http :/ /www .i sog g.org /tree/ , 162
( a cce ssed on 30 Jun e 20 23)). However , f or brev it y t he Y-chromosome linea ges o n the 163
t ex t are r eferred to b y t he l ette r of th eir b a sic haplogroup and t heir te r min al mutati on . 164
M itochondr ia l D N A a n d Y-c h romosome coalescence a ge s were estimated by u sing 165
s t a t is t i c s r h o 36 and S igma 37 , and the evoluti o nary rates propo s ed above. 166
P hyl o geograph y : B as ed on t he fos sil remains found in Eur as ia, for p hyl o g eo g r aphic 167
pu rposes we divided Eurasia int o the following sev en geogr aphic r egion s : 1 ) Eur ope, 2) 168
The M iddle Eas t- Cauc a su s , 3) Centr al A s ia (including the Pamir a n d Ti b etan plateaus, 169
t he Al tai mou nt ains and M ongolia), 4) South A s ia (including Afghanistan, Bangladesh , 170
B hutan, India, Nepal , Pa ki stan and Sri Lanka ) 5) South Ea st Asia ( i n c luding s outher n 171
C hina), 6) Is land Sout h Ea s t A s ia (incl uding ancie n t Sundaland, the Philippi nes and 172
Island s o f W allacea), 7) Ancient Sahul (Including N ew Guinea and Australia) , and 8) 173
Near O cea n i a I sland s . A s we are dealing with the earli est per iods of t he m o der n human 174
spread acro s s E u ra s ia, we focu s on th e presence/ ab sen ce of the mt DNA an d Y-175
chr omosome bas al lineage s in each o f the above -m en tioned Eur a sian regions. To 176
enr ic h and actu a lize these anal y se s w e included mtD N A s amples repor ted by Y Full 177
M Tree (M itochondrial Tree ) a n d Y-c h romosome samples r eport ed by YFull YTree 178
( Yc hr omosome tr ee) av ailabl e at YFull databases ht tps :/ /w w w. yfull.com , ( ac cessed on 179
30 J une 2023)). M ea n h a p l o group differences in coale scence a g es between r eg ion s 180
wer e calculated by two-t ai led t - tests c o n s ider i n g t hat the m ean and standar d erro r 181
estimat ed for hap logr oup ages fr om different samples wer e no rmally dis t r ibuted . 182
Results
183
A ll da t abas es and the most r ec ent li t eratur e abou t unipar en tal marker s have been 184
s creened in sea r ch of pos s ible undoc ument ed rar e basal li n ea ges. Ne w mt DNA 185
haplogr oups and new b ranche s fo r kn own mtD N A haplogroups are des c r ibed for 186
m a cr ohaplogroups M, N , and R, in s u pp l em entary figur es 1, 2, and 3, re sp ectively . 187
The mo s t p robable geographic origins and their rela t i ve ages for lineages wit hin 188
m tDNA macroh a p l o groups M, N, a n d R, are des cr i b ed i n supplemen tary figures 4, 5 , 189
and 6, r es pe ctively. 190
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The mt DNA sequence s u sed for calcul ating the coales cent a ges of lineag es within 191
m a cr ohaplogroups M, N , and R are lis t ed in s upplem entary tables 1, 2, and 3, 192
re s p e c t i v e l y . 193
A n ac t uali zed phylogenetic tr ee f or the Y chr omosome CF- P143 and D E - M1 45 Eur asian 194
br anches and t he phyl o g eo g r aph y of their res p ec t i ve lineages ar e depic t ed in 195
supplement ary figure 7. 196
C oal es cent age s fo r the main Eur as ia n mt DNA haplogroup s in the main ge ogr aphic 197
ar eas , and th ei r age comp a r is on s between r egi o ns are des cribed in Table1. 198
Table 1. Mitochondrial DNA main haplogroup coalescent ages (kya) in the
different regions
Regions West/Central Southern Eastern Southeast Near
Asia Asia Asia Asia Oceania
Haplogroup M
Founder 61.2 81.3 79.6 92.3
95% CI : 55.8 - 66.7 67.9 - 94.5 35.0 - 83.8 81.2 - 1 03.3
Radiati on 37.7 61.1 51.3 62.9
95% CI : 32.2 - 43.4 43.7 - 78.4 44.3 - 58.4 41.2 - 8 4.7
Haplogroup N
Founder 6 8.5 53.7 66.4 68.6
95% CI : 5 6.8 - 80 .2 10.1 - 92.4 52.7 - 80.1 44.8 - 9 2.4
Radiati on 3 9.5 35.6 45.0 43.6
95% CI : 1 6.0 - 63 .1 0 - 86 .9 26.0 - 63.9 18.5 - 6 8.6
Haplogroup R
Founder 8 8.3 89.8 83.4 82.8
95% CI : 6 6.6 - 10 0.1 79.7 - 99.8 78.2 - 88.7 74.6 - 9 0.8
Radiati on 7 7.8 73.6 68.0 43.3
95% CI : 5 9.5 - 95 .7 58.9 - 88.4 58.3 - 77.7 4.0 - 82 .8
Signi f i cant c ompa ri son s be tween reg ion s :
Haplogroup M
Founder :
South A sia v s Ea st A sia : p = .0055 ; t = 2.9 11 4; df. 46
South A sia v s So ut h e a s t A sia: p < 0 .000 1; t = 5.5 087; d f. 8 7
South A sia v s Ne ar Oce a nia: p < 0.0001 ; t = 5.20 41; df . 49
Southe a st A s ia v s Ne ar O c e ani a: p = 0.01 67; t = 2.4672 ; d f. 56
Expan s ion:
South A sia v s Ea st A sia p = 0 .0026; t = 3.1 763 ; df. 46
South A sia v s So ut h e a s t A sia: p = 0 .003 5; t = 3.0 046; d f. 8 7
South A sia v s Ne ar Oce a nia: p < 0.0001 ; t = 4.28 81; df . 49
East Asia vs Sou the as t A s ia : p = 0 .0024; T = 3.1 866; df . 53
Significance after Bonferroni correction p = 0.008
Haplogroup N
N o s i gnif i c a nc e bet wee n r e gio ns af t er B o n f e r r o n i c o rr e c t io n
Haplogroup R
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N o s i gnif i c a nc e bet wee n r e gio ns af t er B o n f e r r o n i c o rr e c t io n
199
Likewis e, coale s cent age s for th e m ai n Eu ras ian Y- chr omosome haplogroup s , and their 200
age compar i son s between regions ar e desc r ibed in Table 2. 201
Tab le 2 . Y-Chro mosome main hap log roup coalesc en t a ge s (kya ) in t he
d iffer ent region s .
R egions West /Centr al Sout hern Easter n Sou the ast Near
As i a A s i a As i a As i a O c ea n i a
Haplogroup
C
M e an 40.9 30.3 60.3 75.2 6 4.4
95% CI : 10.6 - 8 4.7 4.5 - 56.1
32.8 -
87.7 63.1 - 8 7.2
29 . 8 -
98 . 8
Haplogroup
D
M e an 63.5 43.2 44.2 62.8
95% CI : 31.5 - 9 5.5
10.4 -
150.8 7.0 - 8 1.3
23.9 -
101.7
Haplogroup F
M e an 39.9 50.6 50.8 68.9
95% CI : 31.2 - 4 8.5 29.7 - 71.6
1.5 -
113.5 55.3 - 8 2.5
Haplogroup
K
M e an 34.8 33.2 40.4 70.6 5 7.3
95% CI : 27.3 - 4 2.4 11.6 - 54.9
26.8 -
54.0 62.2 - 7 9.1
34 . 5 -
80 . 0
Signi f i cant c ompa ri son s be tween reg ion s :
Haplogroup C
W e st / C e ntral A s ia v s South ea s t Asi a: p = 0.0278; t = 2.76 75 ; df .7
Southe rn A s i a vs S ou t h e a s t A si a: p = 0.00 1 3; t = 5.1 833; d f.7
Southe rn A s i a vs Nea r Ocea n ia: p = 0 .0457 ; t = 2.51 39; d f.6
Significance after Bonferroni correction p = 0.008
Haplogroup D
N o s i gnif i c a n ce bet wee n r e gio ns a f t er B onf er r o n i c o rr e c t io n
Haplogroup F
W e st / C e ntral A s ia v s South ea s t Asi a: p = 0.0006; t = 4.98 11 ; df . 10
Southe rn A s i a vs S ou t h e a s t A si a: p = 0.01 4 7; t = 3.0 975; d f.8
Haplogroup K
W e st / C e ntral A s ia v s South ea s t Asi a: p < 0.0001; t = 7.89 71 ; df . 12
W e st / C e ntral A s ia v s Nea r O c e ania : p = 0 .0129; t = 3.0201 ; df . 10
Southe rn A s i a vs S ou t h e a s t A si a: p = 0.00 0 7; t= 4.62 65; d f. 11
Easte r n Asi a vs Sou thea s t A s ia : p = 0 .001 ; t = 4.1604; d f. 14
Significance after Bonferroni correction p = 0.008
202
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Discussion
203
The Eur as ia n foss il record f rame : Figur e 1 p res en ts t he geographic di s t ribution and 204
appr oximate ages fo r the main mod e rn human fo s sil remains unearth acros s Eura s ia. 205
Fig 1. Age s for t he old es t human foss i l rem a ins uneart h ac r oss Eurasia. Arr ows indicate 206
t he first out o f Afric a nor thern r ou te and t he s ubsequent retur n to Af r ica a n d 207
colonization of Sout heas t A s ia. 208
209
A ges are decrea sing longitudinally fro m t he L evant to Eas t As ia and in th i s region with 210
latit ude going s out hwards to Isla n d Sou theas t Asia ( IS EA ). This di str i b ution is m ore 211
compat ible wit h th e hypoth es is that moder n human fo l lowed a n or the r n r out e t o 212
colonize Eura sia aft er the A f rican exit than th e m os t popula r souther n c o a s tal ro ut e 38 . 213
In addit ion, if the out of Afric a aro und 120 k y a wa s a su c c e s s f ul ex it i t w o uld c oincide 214
with t he c limatic ally favorable Ma r in e Is ot ope Stage 5e (MIS-5e) fac ilitat in g a 215
no rthwar d ex pansion. Furt hermore, t his nort hern spread would explain th e moder n 216
hu man male i ntrogr es sion on a femal e Nea n derthal genome det ec t ed in th e Alt a i 217
M ountains around 10 0 k ya 39 , and t he s imilar i t y of th e Neandert hal genome s egment s 218
int rogressed into moder n human gen omes with the appr oxima tely 90 ky old 219
Neandert hal ge n ome obtained fr om t h e A lta i Chagyr s k a ya Cave s pecimen 40 . 220
Fur therm ore, a ve ry early N eand e r thal intr ogress ion m i ght hav e occurr ed into th e 221
ance stors of th e 4 5 k y old Siberian Us t ’Is him spe cimen around 204.1 -95.6 kya 41 . How 222
Eur as ian mod ern humans behave at t he M IS - 5 c older s t a ge s d and b is un k nown, bu t 223
t here is ar c h a eo l o g ical infor mati on from the coldest s t age M IS-4. Ar ound 75 k ya 224
Neandert hals went do w n t o the Leva nt 42 , a southwar d ret r eat tha t p os sibly ex t ended 225
t o its ent ir e geographic range having a parallel l o s s of ground b y m odern humans. 226
M odern hu mans r eturn e d to the L eva nt aroun d 50 k ya 43,44 and made inr oa ds int o 227
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Neandert hal-occ u pied Europe sin c e t hat time 45 . I t has been proposed that this 228
m odern human secondary spread or i ginat ed i n Africa and recolonized the Lev ant 229
confr onting t he N eander thals . H owever, at that t ime it is ex pected t o occ ur the A fr ica n 230
un i p a r ental lineages should be basal m tDNA haplogr oup L 3* and basal Y chr omosome 231
haplogr oup E* but t he European r em ains supposedl y b el o ngi n g t o that A f ri can wav e 232
had Eur as ian lineage s as mtD N A N , M and R and Y- c hr omosome haplogro up C1 (Figure 233
2) . Thu s , th e m olec ular ev idence favo r s the hypot hesis that t he recoloniza tion of the 234
Levant and the f irst forays into Eur ope c ar ried out by mod ern humans origi nated f ro m 235
a Cent ral Asia cor e a r ea 46,47 that could also reach the Near Ea s t a n d north ern Afric a 48 . 236
The an c ient D NA Paleolit hic windo w : Due to ancient D N A (aDNA) conserva tion 237
pr oblems, Paleoli t hic samples s equenced acro s s Eur a s ia have a f av o rable geographic 238
no rther n b ias and a tem poral l imi t ar o und 50 kya (Figur e 2) . Due to t hes e limitations , 239
and t o the de ep coales cent a ges of the basal uniparental haplogr oups, L3* for the 240
mtD N A 25 and CT* (CD E F) f or the Y- c hr omosome 6 , pr oposed here to be carr ied by t he 241
f i r s t out of A f rica modern h uman migrant s , it is not unexpected th a t al l m t DNA 242
lineages detected were basal o r primi t iv e sequences belon g ing t o mac r o-h aplogr oups 243
M or N and N der iv ed lineages bel o ng i n g t o the R macro- hap logroup as U a nd B (Figur e 244
2) . S imilar l y, Y-chr omosome lineages found f el t int o haplogr oups C an d F a nd t o the 245
m os t p rominent F de r iva t i ve , hap l o g roup K (Figure 2) . 246
Fig 2. Ancient m tDNA (Black) and Y-C hr omosome (Red) l ineages obtained f r om dated 247
m odern human remains acro ss Eura sia. 248
249
H owever, the Paleo lith ic geographic distribut ion o f these uniparen t al l in ea ges 250
cont rast s , in some ca s es , wi t h their cur rent distr i b u tions. O ut s t anding ex a mp l es are 251
t he presence o f the present- day wester n mtDNA haplogr oup U in easter n a n d 252
no rtheaster n As ia as revealed by t he analy zed rem ai n s fr om Mal’ta and Yana. On the 253
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cont rary, tod ay major ity ea s t ern mtDNA M lineages wer e p resent in Paleolithic 254
Eur opean population s as evidenced by the aD N A samples anal y zed fro m Goyet and 255
B a choKir o. A comparable situation occurs for the Y-chromo s ome r es ult s . The curr ently 256
pr ominent wester n haplogroup R was detected in the Sib erian remains f ro m M a l’t a 49 , 257
and basal lineag es belongin g to haplogr oup C, current ly d ominant in Asia, were 258
det ec t ed in the BachoKiro and Goyet Eur opean remains 50,51 . However, in t his case 259
t hes e lineages m ig h t persi s t ed and ev o l ved in Eur ope as att es t ed by t he pr esence of Y-260
chr omosome haplogroup C 1a 2 -V20 h aplotypes in G r av et tian asso cia t ed Paleoli thic 261
r emains f rom Vestonice (Czechia) an d Fournol (Fr a n c e) aged at ar ound 30 k ya 52 that 262
ar e s till foun d a t low fr equencies i n p resent-day Euro pean populations. Th es e ca s e s 263
have served to demon s t rate th a t th e geographic di stribut ion of the hum an populations 264
in Paleolithi c times could be different to t hos e in pr es ent - times 53 . In addition, the fact 265
t hat the specimens analy zed from t h e BachoKiro cave in Bu l gar ia 50 clas sified in the 266
m tDNA haplogr oup N * shared t hree t r ans it i o ns (4113 , 815 5, 945 6) w it h th e Salkhit 267
( Mongolia) spec im en 54 , forming a ne w branch in the N* tree, pr ov isionally c las s ified as 268
N*3 (Supplement ary figure 2), dem ons t rates the extr a o rdinary migr a t ory capa c it y of 269
t hes e Paleolithic human gr oups. M os t probably, some of th es e ancient line ages went 270
extinct. H owever, more p resent-day population s must be analyze d b efore to r eac h at a 271
def init ive conclusion. For example, it was su gge s t ed that th e Siber ia n Ust’Ishim 272
spe cimen did not have moder n -day des c endant s 55 but later s t udies dem ons t rated t hat 273
he shares 3 8% of its ge n ome with present- day Siber i an and Ea st Asian populations 56 . 274
Fur therm ore, in the genom e of c u rre nt Tibetan highlanders it was det ec t ed an anc ient 275
genet ic compon e n t composed of an admixture o f a r chai c hom i n i n s and Us t ’Ishim like 276
genom es 57 . In addition, Us t ’I s him and Oa se 1 f rom Rom ania ( F igur e 2) s har e a d erived 277
allele at M23 08 pos it i o n w it hin Y-chromosome haplogr oup N O with a present- day 278
south ea ster n Indian Telegu indiv idu a l 6 w h i ch su gge s t s male genetic c o ntinuity and, 279
again, great m ig r ator y cap acities . 280
A c onsequence derived fr om th ese aDNA studies w a s the sequencin g o f com plete 281
genom es of ar c haic human s a s Nean derth a ls 58 a n d Den isova n s 59 whic h p ropitiate s the 282
discover y of their genetic adm i xt ure with moder n hu mans. It is a c cepted t h a t 283
hybr idiz at i o n w it h N eander thals occu rr ed fi rst and in one main p ulse 60 , a lthough 284
se condary en counter s cannot b e r uled out 41,61 . Co nv er s ely, th e adm i xt ure with 285
D enis o v ans o c c ur red latt er and sev er al t imes acros s a wide continent al range. 286
D enis o v ans were dis c over ed us in g only molecular techniques, first fr om th e D enis ova 287
cave prehistor i c r e m ai n s at t he Al tai Moun tains in souther n Siberia 59 and l at er on th e 288
Tibet an pla t eau f rom Plei stocene r em ains and sediments 62,63 , but t h e int rog r ession 289
studies ca r ried out i n t h e genomes of present-d a y hum an populations dis c overed t ha t 290
genet ic ally highl y d i f ferentia t ed arch aic gr oup s, m ore or less r elated to the Alta i 291
D enis o v ans , most pro bably pop ulated wide a d ditiona l geographic areas in cluding 292
M SEA, IS EA and even near Oc eania 41,64–66 . 293
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The ear ly out of A f rica : Early moder n humans left A f rica and spr ea d acr o ss the Middle 294
East dur ing t he humid MI S 5e sta ge around 1 30 kya 24 . The s plit of mtDNA h aplogr oups 295
L3’4 and the or igin of Y-chromo s ome m a cr ohaplogroup CT ( Ta b l e s 1 and 2) were the 296
m olec ular u niparen tal mar k er s of tha t event. The Sinai Peninsula was one of the mos t 297
f a vor able pas sage s for this expansion 67 . The recent confirm a tion o f th e ex i stence of 298
basal Y- chromosome haplogr oup D2 lineages in we stern A fr ica 68 qu e s ti on e d t h e m o s t 299
par s imo nious exit of only one Y-chr omosome composite c lade (C T) 6 , favoring instead 300
t he ex it of three ind ep endent l ineages ( C, D and F). H ow ever , the presence of bas al D 301
lineages i n t he Middle East that ph y logenet ic ally incl u de the Afr ic an lineag es 69 , t he 302
det ec t ion of a p rimi t iv e D 1b s u bc lade in the Ph i lippi n e s and pos s ibly in Malay si an 303
H oabinhian for ag er s 70 , and the rec u rrent presenc e of DE* Y-chrom os om es in Tibet 71 304
and sout hern China 72 are a ll a r gumen t s support ing an E u ra s ian split of hapl ogr oups D 305
and E t hat, most pro bably oc curr ed in S o utheast Asia 73 . 306
The bipar ental adm ixtur e wi t h N eander thals in t he Cauca su s 74 , in th e Altai Mount ains 307
of s out hern Siberia 39 , and poss ibly in U st’I shim, we s t ern Siberia 41 s t rongly points to a 308
sub sequent nor thward spread of these p eople. H owever, it is difficult to obtain more 309
dir ec t proof s of t h is hypot hetical n orther n incursion from any disc ipline. A t molecular 310
level, there i s no pr es ent o r pas t ev idenc e of ear ly ph y logenet ic br anc h i n g of t hose 311
un i p a r ental mar k er s , pr obably due to the low popu l a t ion s ize of those hum an 312
gr oups 75 . On the archaeologic al s ide, it has been documented t hat a t Middle 313
Paleolith i c times early moder n and ar chaic h uman s u sed indistinguis h able lithic 314
indu s tr ies 76 , and the mixed feat u res found in numerous remains o f that ep och make s 315
dif fic ult i ts m orphological c las s ification. 316
The lac k of bas al unipar ental lin eages in the curr ent pop u l at i ons of Central A s ia 317
indicates that t hose p i o neers d i d n ot survive t o the pres ent -day. 318
The f irst ret urn to A f r ic a: Cli mat ic condit i o ns wor s ens s in ce MIS5d stage a t around 11 0 319
k ya. Colder condit ions could oblige humans to r e t reat f rom t hei r nort he rn m os t 320
colonized border s , pu s hing ba ck furt her s o uthern gr oups. Avoiding mounta in bar rie rs 321
su ch a s th e P a m irs and t he Himalayas, t hos e migr atory movement s t ook s o me gr oups 322
of modern h u mans t o S o utheast Asia while oth ers r etu r ned to th e African Cont inent. 323
This ba ckf l o w t o Af r i ca was f i r s t s ug g ested fr om the Y-chro mos o me phylo geny and 324
ph y logeogr aph y 77 . Later, it was proposed th a t mtD N A h a p l o g r oup L3 c o uld be t he 325
f emale count erpa r t of that r etur n 25 . Consequently, we hav e dat ed this r et r o-migrati o n 326
ar ound the r ad iation ages of m tDNA haplogr oup L3 and Y- c hr omosome haplogro up E 327
( Ta b l es 1 and 2). Thi s gene f l o w f rom Eur as ia to Af rica c ould explain the sm all 328
Neandert hal c om ponent det ec t ed in African populations 78 . In addit ion, Neandert hals 329
could play a c om petitiv e role in this moder n human re t rea t t o Afric a as th ere is 330
ar c haeological evi d enc e t hat moder n humans a b a n doned the Levantine re gion ar ound 331
80 k ya being replaced b y Neander thals 79 . 332
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A lthough signal ing later migratio ns, it is w or th ment ioni ng that E1b1b -M215 Y-333
chr omosomes wer e p res en t in the Mi dd l e East at least s in ce the M es olit hic Natufian 334
per iod 80 , a n d that mor e de rived b ranc he s of this haplogroup h a ve been do cumen ted in 335
Eur ope and We st A s ia. If th e se bran c hes were the r e sult of s ub- S ahar an Af r i ca gene 336
f l o w it should be expected th a t at l eas t mtD N A haplogr oup L3 l ineages wo uld als o 337
appear in these r egions , bu t this is no t t he c ase. Thu s , m os t probably, the a c companied 338
m a t ernal lineages of t hat spread were of Eur as ian or i gin. A s haplogr oup E Y-339
chr omosomes r epresent a ke y comp onent of the A fr i can pater nal ge n e p o o l, its 340
pr es en c e in Euro pe might explai n t he fact that genet ic distance s b e t ween Europeans 341
and A fricans ar e l o w er than thos e of the later wi th East Asians or Oceanians 81 . If t his 342
hypo thesis were corr ec t , a bia s due to gender s hould also be detected in t h e analysi s 82 343
. 344
The f irst expansion in S o utheast A s ia : D es pit e t he t ime molecular eclipse c omm ented 345
above, colonizer groups had to m i gr ate at a good pace under adverse conditions and 346
gr ow fas t in f av or able plac es, to for m is o l at ed c om munities where commo n 347
un i p a r ental lineages diversified indep enden tly as found at c ont inental and 348
sub continent al scales. It is deduced fr om p hyl o g en etic and p hy logeo gr aphic 349
inf orma t i o n tha t Sout heas t A s ia, including s out hern Ch i n a , wa s one of the regi o ns 350
wher e the founder l ineages fir s t ar rived and ex p anded. For instance, here, after th e 351
cla s sification of 232 pr evi o us ly undet ermined comple te mt DNA sequences, it was 352
po ssible to cons t ruct new ba sal haplogr oup tr ees or n ew basal branche s o f known 353
haplogr oups. F r om these, nineteen belonged t o macro-haplogr oup M (SFig.1) being 12 354
( 63%) of Southeast Asia adscript ion and 7 (37%) of South A s ia pr ov en a n c e. Only 7 ne w 355
clades wer e c on str ucted within macro- haplogroup N (Sfig2), 3 (43%) or ig in at ed i n 356
Sout heas t As ia and t he res t inc lud ed W est Eurasian and N ear O ceania s am ples but 357
no ne w as fro m S o uth Asia. El even ne w clu s t ers were found in macro -hapl ogroup R , 6 358
( 55%) had S o utheast Asian origin and 2 (18%) were fr om South A s ia (Sfig3). Stat i stical 359
compar is on s between main geograp hic r eg ion s (Table 1) showed that f or mtD NA 360
m a cr o-haplogroup M , the fou nde r an d r a d i at ion c o a lescent age s of Sou theas t Asi a and 361
Near O cea n i a M haplogroups are si gn if i cant l y older than in othe r regions. The f ac t that 362
hu man mtD N A M lineag es in India have s ignificantly younger age s t han those in East 363
A s ia, Southeast Asia, and near Oce an ia, wa s p revious ly u sed a s evidence against th e 364
south ern rou te hypothesis f or the colonization of Eur a sia and the evid ence of an 365
ear li er anc estr al cent er of r a d i at i on i n Southeast Asia 83 . Likewi se, the lack o f bas al 366
m tDNA macro- haplogroup N lineage s in India and its presenc e in Sout heast A s ia and 367
Near O cea n i a wa s u s ed a s a n ar gume nt suppor ting the exis t enc e of a nor t her n rout e 368
f or the colonizati on of Eur as ia 84 . F u rt her more, coeval indep endent dispersals o f 369
m tDNA R haplogr oups in West Asia a nd Near O cea n i a also pointed t o the exis ten c e of 370
a halfway core-ar e a of e xpansion in Southeast Asia 85 . 371
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Overlapping phylogeo graphy and me an coalescen ce age s for the main basal Y-372
chr omosome Eurasian l ineage s (C, D , F, K) ar e also in s up port of an ear ly ar rival a n d 373
ear ly expansion of moder n human m ales in S ou theast Asia and Near O ce a nia (Table 2). 374
The existence of an early c ent er of Y-chr omosome expans ion in Sout heas t A s ia was 375
f i r s t proposed fr om the r es ult of a h i gh- resolution phylogenetic and phylogeographic 376
analy sis of haplogr oup K-M 526 86 , and aft erward for the exclus ive presen ce in this 377
r egion of confirme d b as al F* l ineages 6 . In contr as t , the reanalysis of Indian put ativel y 378
basal F* m al e lineages demonstrat ed that th ey wer e basal member s of hap logr oup H, 379
a der iv ed br anch of macro-hap logr oup F 87 . Once more, t hes e r es ult s are ag ainst the 380
south ern rou te hypothesis t hroughou t the Indian subcontinent . 381
Thu s, all s ub sequent m ig r ator y waves had Sout heas t Asi a as their dem ographic c ent er 382
of ex pansion. 383
The ear lies t Asian ex p ans ion : The f i rst great split of t h e ea r ly modern hu m an group 384
th a t c o l o niz ed Eur as ia oc c ur red in Cent ral Asia, and while one subgrou p 385
r eturned t o the Mi d dle East and A fr ica, another gr oup advanc ed eastward s 386
migr a t ing al o ng t he nort h ern slopes of the Himalayas r eaching sout hern Ch ina, 387
th e In dochina p enins ula and Sundaland (Figure 2) . Afte r this, t he fi rst 388
det ec t able un i p aren tal expansi o n fro m t hat region is marked by the deep 389
phylogenet i c divergence and va s t bu t fragment ed geographic dis t ribution , w it h 390
pr ominent pockets in the And a m an Islands, Tibet, and Japan, of t he Y-391
chrom os om e haplogroup D -MCTS39 4 6 71 . W ait i n g f or m or e a ccurat e a n d 392
unbiased Y-chrom os om e sequencing analysis t hat definit i v ely resolve the 393
ident i t y of the D *(x M 174) lin eages d et ec t ed in Asi a 88,89 , t he mos t anc estr al Y-394
chrom os om e D cla d e in Sout heas t As i a was f ound in the Philippines (D1b -395
L1378), th us, a s o utheastern r egion, inc luding t he Phili p pines , may be 396
con sidered the r adia tion center f or th at early migrator y wave that h a d t o b e 397
close in t ime to the one t ha t, spreading eas t ward s , colonized Austr a lasia. D-398
M 174 w a s detected in a Malay si an H oabinhian hunter gather r ema in 70 . F r om 399
th e D -M 174 anc estr al no de two s ister br anches diverged ar ound 79.8 k ya g iven 400
place to the ancestors of An damanes e and J a p a n es e lineages D 1a2b-Y 346 37 401
and D 1a2a-M64 r es pe ctively 90 . This favors the exis ten c e of a coa stal route wit h 402
ample lat it udinal range. Barely after , a t hird br anc h, D -Y15407, gave rise t o the 403
two Tibet an c lades D1a1a-M 15 and D 1a1b-P 99. Additionally, the det ec t i o n of 404
an ance s t ral Y-chromo s ome H g P-295 * lineage i n an histor ic al And a manes e 405
re m a i n 91 , whose phylogenetic c o unterp a r ts hav e been o nly det ec t ed in 406
M a lay sia and t he Philippines ( S Fig 7), stro ngl y r einforces the h ypothesis t h at 407
th e A ndaman Ar c h i p e lago was c olonized by a demic westward spread f rom 408
Sundaland. It is difficult to ass ign a u nique mat e rnal counter part t o th e Y-409
chrom os om e haplogroup D i n t he An daman and J apan a s the mo s t p romin ent 410
mt DNA lineages are dif fer ent in each region. Secondar y br an che s of 411
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Indian/Indochina mtD N A haplogroups M31 and M 3 2 are the mat e r na l 412
r epresentatives in t he O nge of A nda man 92 , whil e secondary branche s of mtD NA 413
haplogr oups N9b and M7 a ar e the prom i n ent cla d es in ancient Jomo n a n d 414
pr es ent -day Ainu Japanese 93 . H owev er, a paradoxicall y widespread mt DN A M 415
clade, haplogroup M 13, wi t h peaks in fr equency and diver s ity in Tibet and 416
Japan, has been si gnaled as a po ssible mtD N A count erpar t o f the Y-417
chrom os om e haplogroup D e xpansion 94 . In addit ion, it mu s t b e m entio ned th at 418
a rar e mtDNA M l i n ea ge (SR G 059) de t ec t ed in W est Papua New Guinea 95 h a s a 419
very con servative transition, T14440C , t hat is a diagnosti c mutation d ef inin g the 420
Indian Indo c hinese-On ge haplogroup M 31. O n t he other h and, a H olocene 421
hunt er-gat her s am ple from the W alla cean S u l awe si I s land also showed a d eeply 422
divergent mtDNA M l ineag e 96 which s har es G 1577 7A tr ans it i o n w it h the 423
common t runk of t he new Indochines e pr oposed here cl ad e M *2 (SFig 1) . Both 424
ca s e s are compatible with t he ex istence of a primitiv e center o f radia t i o n i n 425
Sout heas t A s ia-Sunda shelf. A pr olon ged period of i solat ion and genet ic drift 426
followed by independent migrati on s in each region could expla in t hes e r esults. 427
Note th a t , al t hough the coalesc ent age of Y- c h romosome haplogr oup D is ver y 428
old, its expans ion age s in ea ch r eg ion ( about 32 kya i n J apan and 10 k ya in 429
An daman), are much mor e recent. The ca s e of Tibet des er v es spe c ial com ment. 430
It has been pro pos ed t hat a Tibetan spec ific mt DNA bas al haplogr oup M lineage 431
(M 62) could be the maternal c o unterpart of t h e Y-Chr omosome haplogrou p 432
D 97 . In pr inc iple, M 62 and the South ea st A s ian mt DNA haplogroup M 68 433
confor med a c o mposi t e haplogroup (M62’68) def i n ed by t ransitions a t 150 , 434
4561, and 7 664 po sitions 35 . However, aft e r th e additi o n of n ew s equen c e s to 435
th e p hyl o g en y of b oth group s (SFi g 1) , the M 68a b ranch la c k s t ransition 76 64 436
and a mor e parsi m onious alt erna tive could be to join M 62 a n d M25 (M 25’65), 437
as both share tr ans it i o ns at 150 , 351 1 , and 13708 p o s itions (SFi g 1). Haplogr oup 438
M 25 i s con s ider ed an anc ient autochthon ous M ela n es ian lineage 98 , t hat 439
expanded in the Solo mo n Is lands 10. 3 k y a (C I: 7 .4-13.3 k y a) . This link s ug g ests a 440
pot entia l gene flow between Tibe t an d M el anesia. Curiou s ly , this is not t he 441
unique case. A rare mt DNA lineage b elonged to macroh a p l o g r oup N has b een 442
r ec ent ly r eport ed i n P apuans fr om New Guinea 95 . Th i s lineage, aggr egated to 443
an also rare Nepales e sequence, c oul d confo rm a new haplogroup (N*1 in SFig 444
2) having tr ans it i o ns at 12681 and 15 262 p os ition s a s d i agno stic mut a t ions. 445
Furt hermo re, th e fact t hat the mt DNA haplogrou p N 11a, sis t er branch of t he 446
spe ci f ic ally Philippine N 11b clade, is f ound in Tibet and surro unding region s, 447
and th e p resenc e of t he rare Y- c hr omosome P1a-M 65 haplogroup in th e 448
Philippines, Melanesia, Nepal 99 and in t he Andaman Islands ( Sfig 7) , al l point to 449
an old genetic relati on s hip among t hes e geogr a p hically di s t a n t regions. In the 450
fir s t m tDNA studies of the Ind i geno us An damanes e, it was proposed that they 451
r epresented the d ir ec t des cendant s f r om the fir s t humans t hat migrat ed o ut of 452
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Af rica 100 . However, that hypothesis was soon r ejec t ed i n f av o r of a Paleo l ithic 453
or ig in f rom th e In dian s ubcont i n ent b ased on more complet e mtDNA studies 454
92,101,102 or a Sout heas t Asi a or igi n b a sed on genome studies that showed 455
closest aff i n i t ies of A ndaman Onge people wi t h Malays ian negr i t o 99 a n d a nc ient 456
H oabinhian hun ter ga t hers from Laos and Malay s ia 70 . Inter es tingly, in the l ast 457
study a genome component of Hoab i nh i an ancestr y wa s d etected in anci ent 458
Japanese Jomo n 70 . L inguis t ic studies on the near l y extinct Kussunda peopl e 459
fr om Nepan a n d O nge fr om the An da man Is land s demonstr ated their a f fi li ation 460
to t he Me lanesian Indo-Pacific linguis tic family, and the poss ibility th a t the se 461
people were t he remnan t s of t he Austr a lo- M elanesia n p rimi tive s et t lers was 462
su gge s t e d 103 , but, just the contr ary, that t hey resulted fro m a Pal eo l it h ic 463
westward expan si o n of the Austr alo - Melanesian anc e stor is equally pos s ib le. In 464
sum, the analy zed g en e t ic dat a a r e c o m patible wi th early human expansions 465
fr om Southeast Asia/ Sund a shelf to w ar d the East and the Wes t a s prop os e d 466
her e. 467
468
The ear ly N ear O ceania colonization : One of t he first argument s questioni n g t he 469
cla s si cal south ern rou te hypothesis 104,105 , was t he detection in Isla n d Melanes ia of ver y 470
ancient and divergent mtD N A m ac r o- haplogr oup M lineages (M 27, M28 , M 29, Q ) 106 471
and P lineages , belonging t o macro-haplogr oup R 107 , in that ar ea. W hen t h es e studie s 472
wer e ext e n ded t o Austr ali a 108–110 , it was evident t hat the f em al e colonizer s of this far 473
away fro m Africa Pacific ar ea carr ied bas al mt DNA lineages that directly s p r out from 474
t he root of th e thr e e Eurasian mtD N A lineages M, N and R . Another unexpe c t ed 475
ob s er v at i o n w as the deep genet i c isolation between th e M elan es ian and Aus t ralian 476
r egions . Y- chr omosome s t udies r eplicated f ai rly w ell th e m tDNA res ult s . It was 477
dem ons t rated since the beginning the pr ofound d ivergence of t he Y-c h ro mosome 478
lineages i n Island Melanesia 111 , and the independent his t ories o f Y-chrom o s ome in 479
M elanes ia and Austr ali a 112 . These results were confirmed subsequently u sing hig h 480
r es olut ion typing and high cov er age m ethods in Australian 109,113 and M ela nesian 481
po pulations 114,115 . 482
One of t he first questions that aro us ed int eres t on th e settlement of th i s area was t o 483
know wheth er it was conducted in on e or s ever a l waves and what wa s or were t he 484
r oute/s f oll o w ed by t hos e ear l y colonizers. Th e p hyl o g eo gr aphy of the unipar ental 485
m a r kers gi ve some cl u es to an swer th e se questions . Fo c usin g first on mt DNA, the 486
oldest haplogr oup M lineages ar e fou nd in Island Melanesi a, and t he domi nant M 487
cluster in New G uinea, whi ch c ould be it s most pr obable c o nduit to Island Melanesia, i s 488
haplogr oup Q, an e ar ly b ranch of the Island Melanesia h a p l o g r oup M29 106 . Thu s, the 489
spread of haplogroup Q in N ew Guine a m ay be bet ter expla ined as a westw ard 490
int roduction from Island Melanesia. One wa y to explain this surp ris ing r e sult is to 491
suppo se that t hose pion eers who f irst reached and grew up on th e M elane s ia I sland 492
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r egion arrived ther e nav ig at ing alon g t he nort h ern coas t of N ew Guinea, wit hout 493
per manently penetrating the island. If this hypothesis i s a ccepted , t he most prob a b l e 494
r oute fo llowed by th os e seafarer s wa s t he north ern route ac r oss Sulawe s i and Maluku, 495
carr yin g b a s al mtD N A M * lineage s that , under favor a ble condit ions , r adiat ed first in 496
Island Melanesia. Curiou sly , a r ec en t genomic a n a ly si s of a middle H olocen e hunter -497
gat herer fr o m the Leang Panninge cave in Sulawes i det e ct ed a basal mtD NA 498
haplogr oup M* in this individual 96 , t h at shares the con s er v at iv e t ransition 6374 with 499
t he Is land M ela n es ia M28 clade. Foc u sing on Austr ali a, it has been demons tr ated tha t 500
t his Con tinent showed a s t rong Indig enous mtD N A s t ructur e 110,116–118 , and that a 501
pr imary poten t ial c ent er of expansion c o uld be s ituat ed in northeas t Queensland 117 . 502
Pr ecisely, the autocht honous mtD NA haplogr oup M42 is particularly fr equent and 503
diver s e in this territor y 110 and, congr uently, its two main lineag es (M 42a an d M 42c) 504
wer e d oc u mented in th e A us t ralian B arr ineans 119 , so it does not seem unre asonable to 505
pr opose that t he p r imary mt DNA M* expansion that occurr ed in Is land M ela n es ia als o 506
extend ed s out hwards c olon i zing the nor theast of Austr al ia . Is ther e a po te ntial 507
it i n era ry overlap signal ed b y Y- Chrom osome mar kers? Y-chr omosome haplogroup SM -508
PR 2099 (S Fi g.7) seems to be the best candidate as its t wo main branche s , M and S 509
( S Fig. 7), are do cumen ted in Is land M elanes ia being M- P256, w ell r epresented in New 510
Guinea and scar ce and mor e derived i n Australia, an acc ur ate reflection o f t he 511
geogr aphic di str i b ution of mt DNA ha plogro up Q , and S1-B 255, more abund a n t and 512
widespread in Austr alia , t he bes t c ou nterpar t for th e Austr al ian mt DNA ha plogr oup 513
M 42. However, t his pot ential nort he r n r oute does not expla in the phyloge ograph y fo r 514
ot her Au s t ralas ian paren tal li nea ges. For instance, mtD N A m ac r o-haplogrou p N is 515
r epresented in Au s tr alia by t hree re la t i vely freq uen t lin eages ( N13, O a n d 516
S) 108,110,116,117,120 th a t have a clear northwest geographi c dis t ribut i o n point i ng to t his 517
ar ea as a potent ia l point of a rr iv al at the c on tinent 85,117 . However, except f or s por adic 518
appear ance s of N13 95,114 , th es e lineages ar e absent in New G uinea. H owev er , a r are 519
N*1 lineage (SF ig 2) has been recently detected in New G uinea 95 with possible 520
ph y logenet ic aff i n i t ies with Nepales e lineages (Sfig 2). O n t he c on trar y , hap logr oup P, a 521
basal branch of macro- haplogroup R in t he near Paci f ic , could have s har ed the same 522
po i n t of entr ance b ut with a s o meho w different dis t ribution. Se ver al au t o chthonou s 523
br anches of P r adiated early in Australia and sli ght ly lat er in the New Guine a 524
highlands 121 , s u gge sting that the colo niz er s who ar rived on the wes t ern coast of Sahul 525
pen etrated inland and b ranching out, some advanc ed t oward the nor th an d ot hers 526
t oward the south. The geogr aphic di s tr i b ut ion of o t her de r i ved mt DNA R li neages with 527
small frequ enc ies as R1 2 and R1 4 in A us t ralia and N ew Guinea r es p e ct i vely, could have 528
f oll o w ed t h is se cond rout e as well. Th e Y - c hr omosome companion of t his western side 529
sett l em ent could be de rived lineages of h a p l o g r oup C1b- F 13 70 (SF ig 7) and haplogr oup 530
C 1b2-B477 (SFi g 7). However, f rom the u niparental info r mati on gat hered a t pr es ent , i t 531
is difficult to t race the precise route follow ed b y t hes e colonizers from Sundaland t o 532
west Sahul. For example, mtD N A haplogroup N lineag e s present in Nu s a Te nggara ( N21 533
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and N22) are younger than the A us t r alian N lineages. The on l y r egi o n i n t he area that 534
br ings t ogether ance stral lineages fo r the th re e mi tochond rial mac r o-haplo gr oups , M 535
( M80), N ( N 1 1) , R (P9, 1 0) is t he Philippine Archipelago. Its clos e st mtD NA affini ty with 536
Timo r-Les t e 122 c ou l d b e in f a vor of a s ou thern r ou te t h roughout N usa Teng gara for t he 537
wester n s ett lement of Sahul. L ikew is e, the pr es ence on the Philippines of th e Y-538
chr omosome bas al lineage s C2- M21 7 and P-PF58 70 t hat are, respectively, si s t er 539
br anches of lineages C1-F33 93 and S M-PR2 099 i n v olved in the settle m en t of Sahul 540
( S f ig 7) , p oints to a main rol e of the Phili p pines as a m ai n step on t he c o l o niz ation o f 541
Near O cea n i a. H owev er , another pos sibility could be that th e P hil ippines , s till today, 542
pr es er ve genet ic vestige s of t he fi rst colonization of mode r n humans bett e r than ot he r 543
islands in Sout hea s t A s ia 123,124 . Thus, against th e best f i t model bas ed o n g en omic dat a 544
t hat prop os ed a sole founding wave of modern h u mans int o the Sahul 125 , 545
ph y logeogr aph y of uniparent al m a r ke rs s t rongly points to the existence of two waves, 546
alth ough the radia t ing ages of the lin eages i n v olved do not al low t o s epar ate them in 547
ti m e ( F i g . 3 ). 548
549
Fig. 3. Austr al a sia and N ear O ceania colonization f o l lowing two pu ta tive no rt hern ( r ed) 550
and sout hern (black) rout es . 551
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552
553
The f irst c o loniz at ion of India: Acc or ding to the sout hern coas t al r oute hypot hes is, 554
Ind i a is c o n s ider ed a n o bli gat ory s t ep in the coloniz at ion o f Eurasia and Au stralasia b y 555
t he modern h umans who left Afr i ca. H ow ever , a s previously ex plained, mt DNA genetic 556
dat a obtained fr om Indian p opulat ions do not s upp ort t his hypot hes i s. F ir s t , there ar e 557
no t autochtho nous m tDNA macro- haplogroup N(xR) lineages in Ind i a and t he N (xR) 558
br anches pr e s ent i n it hav e their ance s t ral root s out s ide of t his subcontinent 84 . It was 559
f or this reason that a sec o nd nort her n r oute, carrying mt DNA macro-haplogr oup N 560
lineages to the East, b ypa ssing India, was pr opo s ed 94,126 . Sec ond , the India n macro-561
haplogr oup M lineages, a lt hough arisi ng d i r ectly from t he anc estr al M node, have 562
f oundation and expansion c o a les cent ages si gnific ant ly youn ger than their 563
count erpart s in Sout heas t A s ia and Austr alas ia (Stable 1), while macro-haplogr oup M is 564
pr ac t ic ally ab se n t from W est Eura sia 83 . Thir d, the majority of the macro- haplogroup R 565
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lineages i n In dia shared d e ep r oots with tho s e pr e sent in western geogr aphic ar eas but 566
do n ot with t ho s e to t he eas t e r n s ide 85 .These mtD N A data were reconciled in a 567
hypo thesis which propo sed that pr eh istoric moder n humans c olonized India following 568
t he two natur a l cor ridor s mar k ed, r espectively, by the Indu s and G ange s rivers at the 569
no rthwest and nor theast s ides of Sou th A s ia. M a cr o-haplogroup M lineage s enter ed 570
t he s ubcont inent fr om the East and those of macro- haplogroup R m a in ly fr om the 571
West 83 . 572
A lthough without a phys i cal g en etic linkage , one would expec t a f ollow you f oll o w m e 573
beh a vior fo r sex-link ed m arkers. In c o n s equence , a Y-chrom o s ome cor relat ed overlap 574
t o the m t DNA Indian phylogeography might be f ound. Y-chrom os om e linea ges 575
con sidered indigenous to India belon g t o haplogroups C, H, L and R 127,128 . As we are 576
dealing with th e mos t primit ive settle r s , we can discard th e h a p l o g r oup L1a-M2481 577
Ind i an br anches a s the most ance s t ra l li n ea ges of th i s haplogrou p hav e be en det ected 578
in western P a ki stan 129 , and the same occur s f or haplogru p R1a-M417 f or which the 579
r oots of the Indian lineages w er e found in th e vicini ty of pr es ent -day Iran 130 . This left 580
us thr ee possible autochtho nous Y- c h r omosome Indian haplogrou ps belon ging to C 1b-581
F1370 , H 1a-M69, and R2- M479 clades . The haplogr up C Indian branch, C1 b1a1a-M 356 582
has an an ci ent c o a les cen c e age of ar ound 54 k y a in India (Table 2) but the a nce s t ral 583
br anches for this haplogroup were f ound in Southeast Asia and S o utheast Asian 584
Island s 73 which c lear ly point s t o an entrance into t he Ind ian s ub c ont inent from the East 585
likewis e wa s found for mtD N A h a p l o g r oup M lineages 83 . Y-chr omosome haplogroup 586
R 2-L 722 h a s a more r es t ricted geogra phic dis t ribut i o n, around and within the Indian 587
sub continent . This haplogr oup arose from t h e bas al R node, def ined by the M207 S NP , 588
f or which a C entral Asia origin was postulat ed 131 . This or i gin has been reinf o rced by the 589
pr es en c e of t his ance s t ral R lineage i n the Mal’ta 1 Paleoli thic spec imen u n earthed in 590
south ern Siberia, wes t of L ake Baikal 49 . R oughly in Cen tral Asia, R-M207 split into two 591
si s t er bran c hes one, R1-M 173 , s pr ead to wes t ern Eur as ia, while R2-M479 , extend i n g 592
south w ar d s , could have enter ed Ind ia throu gh the wes t ern or t h e eas t ern corr i d ors. 593
The f a ct t hat R2 is m os t c on cent rated in souther n and eas t ern regions of India 129 594
slightly favors the eastern alter native . Fi n a lly, the ca se o f H-L901 is r emarkably 595
int eresting becaus e th i s ba sa l haplogr oup is t he only o ne t hat seems t o hav e had it s 596
f i r s t ex pan s ion into In dia . We have al r eady s een t hat Y-chromo s ome macr o -597
haplogr oup F had its first radiation in Sout heas t Asi a. A fterwar d, two cons e cutive splits 598
occurr ed giv ing pla ce to the bo rn o f h aplogr oups G and H (SFig 7). Hap l o g r oup G 599
developed a clear wes t ern Eur a sian phylogeographi c patt ern with most probable 600
expansion centers s it uated in the Cau ca su s or w ester n Iran 132,133 . Curiously , 601
haplogr oup G h as not been d e t ected in eas t ern Eurasia and its spor adic pr es ence in 602
Ind i a r es ult ed from r ec en t wes t ern m igrat ions 128 . A s for haplogroup H , i t is a spe c if i c 603
Ind i an clade with sec on dar y ex pan sions to eastern and western r egions . A l t hough the 604
highest fr equencies for haplogroup H were found in south ern Ind ia 129 , the basal H-M 69 605
haplogr oup display ed t he highes t S TR variance in nort heas t India 129 w h i ch point s t o an 606
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ent ry thr ough the eastern Ind i an cor r idor f o r the ancestors of Y-chr omoso me 607
haplogr oup H. H u man migrat ion into India had to be a complex process a s c an be 608
ded uc ed by t he a m ple t empor a l r anges fou nd for t he foundati on an d e xpa nsion age s 609
of dif ferent mtD N A (Table 1 ) and Y-chromosome lineages ( Table 2) . L at e r N eolit h ic and 610
po s t- N eolit hic exogenous s pr ead s int o India ar e c lear l y signaled by Y- c hr o mosome of 611
wester n (J) and eastern (O) ads criptio n 134 . In add i t ion, i t has b een obs er ved that these 612
genet ic influxes we r e mediated mostly b y males , cau sing an imp ortant s ex-bias on the 613
aff ec t ed populat ions 135–137 . A l l t h e se l a t e r d e mi c mo v eme n t s h a v e b lu r re d t h e t r a c k s o f 614
t he first migrations , but ev en so, th e f ramework indicated by the un i p a r ent al marker s 615
is in c lear cont radiction with t he s out hern r oute. Fur t hermo r e, our genet i c hypot hes i s 616
on t he mode r n human coloniz at i o n o f India finds a bet te r f i t int o t he mode l deduced 617
f rom archaeological data, whic h also question the souther n rou t e dis per s al of mod ern 618
hu mans fr om Africa t o Southeast Asia throu gh India 138 . 619
The f irst c o loniz at ion of Eur ope : A r c heological findings at test that t he f irst for ays of 620
m odern human s into Eur ope took pla ce more t han 50 ky a 45 . The s u bs eque nt 621
Paleolith i c coloniza t ion move ments are well documented by t he European 622
ar c haeological and anthr opologic al r ec or ds. R e cent ly , no table improvemen t s in th e 623
extr ac t ion and analy si s o f DNA fr om a nci ent remains has made pos sible ge net ic studies 624
on t he s ame samples c har ac t erize d a nd d a t ed previ ously b y t he anthro pol ogis t s up to 625
ages c lo se to 50 k ya 139 . Thus , in t he case of Europe, t he human genetic pre histor y of 626
t heir unipa ren tal markers can be directly approached fr om ex isting samples along th e 627
dif fer ent ar chaeologi cal horizons ins t ea d o f inf err ing the m fr o m the phylo geny and 628
ph y logeogr aph y of the unipar enta l lin eag es pre sent in its curr ent populatio n . 629
The mo s t ancient Eur opean human s pecimens f rom Early Upper Paleolithi c belonged 630
t o eas t e r n Europ e and h a r bor m tDNA macro haplogroup N ba s al lineages w ithou t 631
pr es en t-day direct des cendants 139 , a n d the fi rst r ec ognizable derived N lineage 632
appear ed in Crimea as a pr e-N1b li n e ag e in a Pr oto-Gravett i an substrat e 140 . Matur e 633
N1a and N 1b lineage s a s well as X2 a nd branches I and W 1 , r es pe ctively derived f rom 634
N1 and N2 t runk s , first appeared in t h e Middle Eas t in Mesoli t hic t imes ( Ta b l e 1) . A s 635
t he 34 k y old Sal khit spec imen f rom M ongolia also harbo rs a N ba s al lineage 54 , t hat 636
had comm on phylogenetic roots with Bulgarian Paleolithi c spe ci m ens (SFi g . 2: N *3 637
t ree), th e mos t parsimonious hypothesis i s to s u ppo s e t hat a bas al mt DNA N lineage 638
ar rived at Europe, and lat er to t he M i ddle East along the Cauca s u s 141 , fro m a cent ral 639
A s ian ance s t ral population. The Y-chr omosomes t hat pot entia lly ac companied this 640
f emale westward m i gr ation wer e basal F * and I* lineages ( S Fig. 7). 641
M itochondr ia l D N A mac r o-haplogro u p M lineages det ec t ed in w ester n Asia cur rent 642
po pulations a r e deri ved lin eages who se root s are in eastern A s ian r e gion s 83 . 643
Sur prisingly, ba sal M lineages were extr ac t ed from Ear ly Upper Paleoli th i c r e m ai n s in 644
easter n 50 , and Wes t ern Eur ope 142 . They w er e al so foun d i n sout hern 143 an d 645
south w e ster n 52 M e dite r ranean areas a lon g with Gravett ian li t hic ar tefacts. However, 646
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21
aft er the LGM, M lineages w er e only d etected in Pleis t oc en e n orther n Af r i c an cont ex t s 647
as M1b der iv at iv es 144 . In contrast t o t he ca s e of mt DNA macro- haplogroup N, the Y-648
chr omosome c o unterp a r ts of these M mat ernal lineage s were in major i t y C1a li n ea ges 649
( S Fig. 7), which points to the po ssibili ty that th i s migrat ory wav e could have followed a 650
m ore southern r ou te t han that used by macro-haplogr oup N female c ar riers, although 651
t he c oalescen c e a ges of both pioneer groups overlapped. 652
Some f emales carrying ba sal R * linea ges c o uld hav e ac companied to t he N* migrant s 653
as ba s al R* types were detected in Ear l y Paleolithic Russi an sites 55 , and in eastern 50 654
and sout hern Euro pean 145 Pal eo l i t hic cont ex t s . The coexi s ten c e of t hes e fem al e 655
lineages w it h Y-chromosome F* ba sa l lineages ( Fi g. 2) i s favoring again a C en tral Asian 656
or igin for t hes e incomers. Alt hough, perhaps, derived “in s itu ” fr om these ancestr al R* 657
lineages, the sub s equen t radiation of mtD N A R* br anches unt il M es o l it hic times of fer a 658
singular per s pe ctive of the r egional interactions that occurr ed in Europe be f ore the 659
Neolithic influences . The m os t p rominent of t hese R* derived lineages was m tDNA 660
haplogr oup U*. B as al U * lineages have been fo und s ince the pr ot o- G ravet t ian in 661
Easter n Europe 146 and la ter i n Siber ia 147 , w hich again points to an equidistant center of 662
r adiation in Centr al As ia. M tDNA haplogr oup U * split into t h ree main indep end ent 663
cluster s: U5, U6 and U2 ’3’4 ’7’ 8’9. N o waday s U 6 is pr edominantly foun d i n north ern 664
A frica and the Euro pean M edite r rane an area 148 , but anc estr al U6* lineages have been 665
det ec t ed in Paleoli thic Easter n Europe 149 and lat er in U pper Paleoli t h ic G e orgia 150 sites 666
t hat preceded th e LGM. After t h is dr a stic period U6 disa p peared fr om Europe but it 667
was per sis t ently detected in Pleis t ocen e r emains f rom M o rocco 144 as der iv ed U6a7 668
t ypes still present tod a y in th e r egion . Thes e dat a f av or an entrance into norther n 669
A frica of U 6 f o llowi n g a nor the r n route acro ss the souther n Cau c a su s. Th e evolut i on 670
and dispersal s of haplogroup U5 along Europe seem s t o hav e been overly c omplex. The 671
ear li est U5* bas al lineages in Eur ope have b een detected ma inly in Centr al and 672
Western Eur ope at G r avettian sites , a c companied by F* a n d C1a2 male lineages 52,143 . 673
These lineage s per s i sted after the LG M , a s undefined U5* type s until Magdalenian 674
t imes in Italy 143 and, most pr obably, matur e d in Eur op e giving p l ace to t he two present 675
day main br anc he s U 5 a and U5b . The U 5a br anch radiated in Mesolithic ti mes mainly 676
f rom Eastern Eur ope, reaching nort hern Eur ope at tha t t i me 151 . As for t he other 677
br anch, U 5b , ba sal lineages have b e en d etected in the Iber ia n P enins ula as s o ciated 678
with M agdalenian c ult ure 143 . More d erivate, U5b1 lineages were fo und m ainly i n 679
Western and Cent ral Europ e also in a Magdalenian c o ntext 52 , w h i le t he U 5b2 br anc h 680
f i r s t appeared in the Epigr av et t ian of Italy 142 . This clu ster had a gener a lized expans ion 681
at t he Mesolith ic being present in Europ e f rom west to east. Y-chrom os om e I2 an d R1b 682
lineages w er e the most rep resentativ e male c o unterp a rts of these female spreads 683
( S Fig. 7). As to t he U 2’3 ’4’7 ’8’ 9 comp osite br a n c h, it s oldest detection o cc urr ed at th e 684
f a r Eas t o f Si b eria, being a ccompanie d by P1-M 45 Y-chromo s ome lineages t hat were 685
t he precursors of eastern and wester n A s ian lineages Q-M 242 and R-M 207 686
re s p e c t i v e l y 152 . In Europe, t his undif f erent ia ted lin eage is first det ec t ed in 687
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M editerr an ean regions 52,142,153 , comi ng accompanied, in addit i o n to the 688
afo remen t i o ned I2, by d erived Y-chromosomes of the pr ominen t Easter n A si an clade 689
C -M130. Cur iously, mt D NA haplogroup s U2* and U 8* lineage s ar rived at Europe 690
bef ore than it s pr ec ur s o r U 2’3 ’4’ 7’ 8’ 9. They were bot h present in Eastern Eur ope s ince 691
t he Initia l U pper Paleoli thic, bei n g p a ir ed wi t h male lineag es C1a and C1b o f Easter n 692
A s ia origin 50,143 . O t her lin eages r eac h ed or ex pan ded i n Eu rop e dur ing t he Mesolithic 693
as mtD N A haplogroups H7, H 13 , K, R 1b, or U4, and Y- chromosome haplogr oups I2 a 1 , 694
I2a2, J 1, R1a or R1b (SFi g. 7). Finall y , oth er l ineages con sidered of Neolithi c ad script ion 695
in Eur ope were present in t he Midd le eas t at leas t sin ce the Mesolithic as i s the ca s e of 696
m tDNA lineages H *, H5, H V, HV 2, I, J , K, N 1a, R0a , T, U 3, U 7, W , or X2 and Y -697
chr omosome haplogroups G 2 a, G 2b, J1, J2, or T. 698
In shor t, and a s pr ev iou s ly s t ated 85,154 , Eur ope, the western mos t Penins u l a of A s ia, was 699
occupied b y moder n humans lat er th an t he rest of th e Co ntinent, and it s c olonizers 700
pr obably reached the region t hrough t he Eurasia n St eppe first, and th rough the Near 701
East latt er, whic h in t urn was p re s u mably colonized b y a parallel sout hern wave from 702
C e n tral Asia that reac hed t he region t hr ough Iran and bor dering th e C a u c asu s. 703
Co nc lu s ions 704
Ph y lo genet ic and phylogeo gr a p hic an aly s es of unipar ental genetic markers on present 705
and past hum an populations, under the perspective o f an ev olu t ionary rate s lowdown 706
going ba ck in time, allowed the cons t ruction of d emographic models that explain the 707
f i r s t s pr ead of moder n hu mans ac r o ss Eura sia, A us t rala s ia and Near O c eania in 708
har mony with the ar c haeological and foss il recor d s . 709
Co nflict of Int erest stat ement 710
The aut hor has no conflic t s of int erest to declare. 711
712
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