{"paper_id":"272bf490-413a-423b-946b-711bfdbca574","body_text":"Predicted deleterious mutations reveal the genomic mechanisms underlying fitness variation in a lekking bird | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article Predicted deleterious mutations reveal the genomic mechanisms underlying fitness variation in a lekking bird Rebecca Chen, Carl Soulsbury, Kosmas Hench, Kees van Oers, Joseph Hoffman This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5579350/v1 This work is licensed under a CC BY 4.0 License Status: Under Review Version 1 posted You are reading this latest preprint version Abstract Deleterious mutations are ubiquitous in natural populations and, when expressed, reduce fitness. However, the specific nature of these mutations and the mechanisms through which they impact fitness remain poorly understood. We leveraged recent advances in genomics to predict deleterious mutations in the black grouse, an iconic lekking species. Analysis of 190 whole genomes alongside comprehensive life history data including repeated measures of behavioural, ornamental and fitness traits, revealed that deleterious mutations identified through evolutionary conservation and functional prediction are strongly associated with reduced male lifetime mating success. Both homozygous and heterozygous mutations reduce fitness, indicating that fully and partially recessive mutations contribute towards an individual’s realized mutation load. Notably, deleterious mutations in promotors have disproportionally negative fitness effects, suggesting they impair an individual’s ability to dynamically adjust gene expression to meet context-dependent functional demands. Finally, deleterious mutations impact male mating success by reducing lek attendance rather than by altering the expression of ornamental traits, implying that behaviour serves as an honest indicator of genetic quality. These findings offer novel insights into the genetic architecture of sexually selected traits and illuminate the complex interplay between genetic variation and phenotypic expression, with important implications for evolutionary biology and conservation genomics. Biological sciences/Ecology Biological sciences/Genetics Biological sciences/Evolution deleterious mutation mutation load fitness black grouse genetic architecture. Full Text Additional Declarations There is NO Competing Interest. Supplementary Files SupplementaryInformationMutationload.pdf Supplementary Information Cite Share Download PDF Status: Under Review Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {\"props\":{\"pageProps\":{\"initialData\":{\"identity\":\"rs-5579350\",\"acceptedTermsAndConditions\":true,\"allowDirectSubmit\":false,\"archivedVersions\":[],\"articleType\":\"Article\",\"associatedPublications\":[],\"authors\":[{\"id\":388511089,\"identity\":\"1feb4313-20a4-41ab-9291-80a372188e4c\",\"order_by\":0,\"name\":\"Rebecca 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