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Genomic evidence for low genetic diversity but purging of strong deleterious variants in snow leopards

文献类型：期刊论文

作者Yang, Lin9,10,11; Jin, Hong9; Yang, Qien12; Poyarkov, Andrey13; Korablev, Miroslav13; Rozhnov, Viatcheslav13; Shao, Junjie9,14; Fu, Qiaomei15; Hernandez-Blanco, Jose Antonio13; Zhan, Xiangjiang9,14
刊名GENOME BIOLOGY
出版日期2025-04-14
卷号26期号:1页码:24
关键词Snow leopards Population genomics Genetic structure Genomic diversity Deleterious variants EPAS1
ISSN号1474-760X
DOI10.1186/s13059-025-03555-0
英文摘要BackgroundLong-term persistence of species with low genetic diversity is the focus of widespread attention in conservation biology. The snow leopard, Panthera uncia, is a big cat from high-alpine regions of Asia. However, its subspecies taxonomy, evolutionary history, evolutionary potential, and survival strategy remain unclear, which greatly hampers their conservation.ResultsWe sequence a high-quality chromosome-level genome of the snow leopard and the genomes of 52 wild snow leopards. Population genomics reveal the existence of two large genetic lineages in global snow leopards, the northern and southern lineages, supported by the biogeography. The Last Glacial Maximum drove the divergence of two lineages. Microclimate differences and large rivers between the western and central Himalayas likely maintain the differentiation of two lineages. EPAS1 is positively selected in the southern lineage with almost fixed amino acid substitutions and shows an increased allele frequency with elevation. Compared to the southern lineage, the northern lineage exhibits a lower level of genomic diversity and higher levels of inbreeding and genetic load, consistent with its recent population decline. We find that snow leopards have extremely low genomic diversity and higher inbreeding than other Carnivora species; however, strong deleterious mutations have been effectively purged in snow leopards by historical population bottlenecks and inbreeding, which may be a vital genetic mechanism for their population survival and viability.ConclusionsOur findings reveal the survival strategy of a species with low genetic diversity and highlight the importance of unveiling both genetic diversity and genetic burden for the conservation of threatened species.
WOS关键词READ ALIGNMENT ; PREDICTION ; SEQUENCE ; TOOL ; GENERATION ; PROGRAM ; HISTORY ; FORMAT ; FINDER
资助项目The National Key Program of Research and Development of Ministry of Science and Technology
WOS研究方向Biotechnology & Applied Microbiology ; Genetics & Heredity
语种英语
WOS记录号WOS:001466492100002
出版者BMC
源URL[http://119.78.100.205/handle/311034/24728]  
专题中国科学院古脊椎动物与古人类研究所
通讯作者Wei, Fuwen; Hu, Yibo
作者单位1.Yunnan Univ, State Key Lab Conservat & Utilizat Bioresource, Kunming 650091, Yunnan, Peoples R China
2.Irbis Mongolia Ctr, Ulaanbaatar, Mongolia
3.Mongolian Acad Sci, Inst Biol, Ulaanbaatar, Mongolia
4.Qinghai Univ, Qinghai Acad Anim Sci & Vet Med, Qinghai Prov Key Lab Pathogen Diag Anim Dis, Xining 810016, Qinghai, Peoples R China
5.Qinghai Univ, Green Techn Res Prevent & Control, Xining, Qinghai, Peoples R China
6.China Agr Univ, Coll Vet Med, Clin Dept, Beijing, Peoples R China
7.Golmud Forestry & Grassland Stn Qinghai Prov, Haixi 816000, Peoples R China
8.Xining Wildlife Zoo, Xining, Qinghai, Peoples R China
9.Chinese Acad Sci, Inst Zool, CAS Key Lab Anim Ecol & Conservat Biol, Beijing, Peoples R China
10.Jiangxi Agr Univ, Coll Forestry, Jiangxi Key Lab Conservat Biol, Nanchang, Jiangxi, Peoples R China
推荐引用方式
GB/T 7714		 Yang, Lin,Jin, Hong,Yang, Qien,et al. Genomic evidence for low genetic diversity but purging of strong deleterious variants in snow leopards[J]. GENOME BIOLOGY,2025,26(1):24.
APA Yang, Lin.,Jin, Hong.,Yang, Qien.,Poyarkov, Andrey.,Korablev, Miroslav.,...&Hu, Yibo.(2025).Genomic evidence for low genetic diversity but purging of strong deleterious variants in snow leopards.GENOME BIOLOGY,26(1),24.
MLA Yang, Lin,et al."Genomic evidence for low genetic diversity but purging of strong deleterious variants in snow leopards".GENOME BIOLOGY 26.1(2025):24.

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来源：古脊椎动物与古人类研究所

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