Pedigree analyses and genomics unravel a recessive gene variant responsible for coat color anomaly among inbred Scandinavian wolves

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Understanding how genetic drift and inbreeding can shape phenotypic traits and the expression of rare genetic variants can be important for conservation management in small and isolated populations. Following the recolonization of the grey wolf (Canis lupus) on the Scandinavian peninsula, the population has remained small and semi-isolated. The population traces back to seven founders, only and is highly inbred. Inbreeding depression has been demonstrated including effects on reproductive output and several congenital deformities. Some wolves also show anomalous coat color, characterized by hypopigmentation displayed as white tail tips, or even larger areas of white fur. In this study, we utilized four decades of monitoring data, dating back to the recolonization of the Scandinavian peninsula in 1983, to examine the occurrence of expressed anomalous coat color investigating its origin and inheritance, genetic architecture, and the effect of inbreeding. SNP genotyping revealed a distinct haplotype linked to the Melanocyte-inducing transcription factor (MITF) gene that co-segregated with anomalous coat color, suggesting a direct causal effect of this variant. The MITF gene regulates mammal melanocyte development, which in turn affects pigmentation. Our findings demonstrate that the identified gene variant is recessive, which in the homozygous state likely causes the disruption of normal melanocyte development, leading to unpigmented or hypopigmented areas. The origin of this haplotype was traced back to a third founder, reproducing for the first time in 1991. Indeed, the genetic constraints and subsequent inbreeding shaped by few founders, small population size, and semi-isolation over several decades point towards the importance of genetic diversity and facilitated gene flow between populations, but also how such vital immigration can bring about unforeseen side effects if inbreeding continues within the immigrant lineages.
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Pedigree analyses and genomics unravel a recessive gene variant responsible for coat color anomaly among inbred Scandinavian wolves | Authorea try { document.documentElement.classList.add('js'); } catch (e) { } var _gaq = _gaq || []; _gaq.push(['_setAccount', 'G-8VDV14Y67G']); _gaq.push(['_trackPageview']); (function() { var ga = document.createElement('script'); ga.type = 'text/javascript'; ga.async = true; ga.src = ('https:' == document.location.protocol ? 'https://ssl' : 'http://www') + '.google-analytics.com/ga.js'; var s = document.getElementsByTagName('script')[0]; s.parentNode.insertBefore(ga, s); })(); Skip to main content Preprints Collections Wiley Open Research IET Open Research Ecological Society of Japan All Collections About About Authorea FAQs Contact Us Quick Search anywhere Search for preprint articles, keywords, etc. Search Search ADVANCED SEARCH SCROLL This is a preprint and has not been peer reviewed. Data may be preliminary. 7 April 2026 V1 Latest version Share on Pedigree analyses and genomics unravel a recessive gene variant responsible for coat color anomaly among inbred Scandinavian wolves Authors : Ylva Brovold , Linnea Smeds 0000-0002-8415-9259 , Dag Inge Vage 0000-0003-2568-1554 , Mikael Åkesson 0000-0002-4325-8840 , Emma Höök , Giorgia Ausilio 0000-0003-0927-8829 , Ane Eriksen 0000-0002-9073-8812 , Petter Wabakken , Richard Bischof 0000-0002-1267-9183 , and Oystein Flagstad 0000-0002-5534-8069 [email protected] Authors Info & Affiliations https://doi.org/10.22541/au.177556353.33514901/v1 249 views 91 downloads Contents Abstract Supplementary Material Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Understanding how genetic drift and inbreeding can shape phenotypic traits and the expression of rare genetic variants can be important for conservation management in small and isolated populations. Following the recolonization of the grey wolf (Canis lupus) on the Scandinavian peninsula, the population has remained small and semi-isolated. The population traces back to seven founders, only and is highly inbred. Inbreeding depression has been demonstrated including effects on reproductive output and several congenital deformities. Some wolves also show anomalous coat color, characterized by hypopigmentation displayed as white tail tips, or even larger areas of white fur. In this study, we utilized four decades of monitoring data, dating back to the recolonization of the Scandinavian peninsula in 1983, to examine the occurrence of expressed anomalous coat color investigating its origin and inheritance, genetic architecture, and the effect of inbreeding. SNP genotyping revealed a distinct haplotype linked to the Melanocyte-inducing transcription factor (MITF) gene that co-segregated with anomalous coat color, suggesting a direct causal effect of this variant. The MITF gene regulates mammal melanocyte development, which in turn affects pigmentation. Our findings demonstrate that the identified gene variant is recessive, which in the homozygous state likely causes the disruption of normal melanocyte development, leading to unpigmented or hypopigmented areas. The origin of this haplotype was traced back to a third founder, reproducing for the first time in 1991. Indeed, the genetic constraints and subsequent inbreeding shaped by few founders, small population size, and semi-isolation over several decades point towards the importance of genetic diversity and facilitated gene flow between populations, but also how such vital immigration can bring about unforeseen side effects if inbreeding continues within the immigrant lineages. Supplementary Material File (manuscript.pdf) Download 1.30 MB Information & Authors Information Version history V1 Version 1 07 April 2026 Copyright This work is licensed under a Non Exclusive No Reuse License. Keywords anomalous coloration canis lupus founder effect hypopigmentation inbreeding mitf Authors Affiliations Ylva Brovold Norwegian University of Life Sciences Faculty of Environmental Sciences and Natural Resource Management View all articles by this author Linnea Smeds 0000-0002-8415-9259 Uppsala University Department of Ecology and Genetics View all articles by this author Dag Inge Vage 0000-0003-2568-1554 Norwegian University of Life Sciences Faculty of Biosciences View all articles by this author Mikael Åkesson 0000-0002-4325-8840 Swedish University of Agricultural Sciences Department of Ecology Grimsö Wildlife Research Station View all articles by this author Emma Höök Department of Pathology and Wildlife Disease, National Veterinary Institute View all articles by this author Giorgia Ausilio 0000-0003-0927-8829 Inland Norway University of Applied Sciences View all articles by this author Ane Eriksen 0000-0002-9073-8812 Inland Norway University of Applied Sciences View all articles by this author Petter Wabakken Inland Norway University of Applied Sciences View all articles by this author Richard Bischof 0000-0002-1267-9183 Norwegian University of Life Sciences Faculty of Environmental Sciences and Natural Resource Management View all articles by this author Oystein Flagstad 0000-0002-5534-8069 [email protected] Norwegian Institute for Nature Research View all articles by this author Metrics & Citations Metrics Article Usage 249 views 91 downloads .FvxKWukQNSOunydq8rnd { width: 100px; } Citations Download citation Ylva Brovold, Linnea Smeds, Dag Inge Vage, et al. Pedigree analyses and genomics unravel a recessive gene variant responsible for coat color anomaly among inbred Scandinavian wolves. Authorea . 07 April 2026. DOI: https://doi.org/10.22541/au.177556353.33514901/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu . 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