Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing

作     者：Xiangyu Yang Yafei Mao Xuan-Kai Wang Dong-Ni Ma Zhen Xu Neng Gong Barbara Henning Xu Zhang Guang He Yong-Yong Shi Evan EEichler Zhi-Qiang Li Eiki Takahashi Wei-Dong Li Xiangyu Yang;Yafei Mao;Xuan-Kai Wang;Dong-Ni Ma;Zhen Xu;Neng Gong;Barbara Henning;Xu Zhang;Guang He;Yong-Yong Shi;Evan E.Eichler;Zhi-Qiang Li;Eiki Takahashi;Wei-Dong Li

作者机构：Bio-X InstitutesKey Laboratory for the Genetics of Development and Neuropsychiatric Disorders(Ministry of Education)Shanghai Jiao Tong UniversityShanghai 200240China Institute of Psychology and Behavioral ScienceShanghai Jiao Tong UniversityShanghai 200030China WLA LaboratoriesWorld Laureates AssociationShanghai 201203China Center for Brain Health and Brain TechnologyGlobal Institute of Future TechnologyShanghai Jiao Tong UniversityShanghai 200240China Department of Genome SciencesUniversity of Washington School of MedicineSeattle WA 98195USA Institute of NeuroscienceKey Laboratory of Primate NeurobiologyCAS Center for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai 200031China Affiliated Hospital of Qingdao University&Biomedical Sciences Institute of Qingdao UniversityQingdao Branch of SJTU Bio-X InstitutesQingdao UniversityQingdaoShandong 266003China Howard Hughes Medical InstituteUniversity of WashingtonSeattle WA 98195USA Department of BiomedicineGraduate School of Medical SciencesKyushu UniversityFukuoka 812-8582Japan 

出 版 物：《动物学研究(英文)》 (Zoological Research)

年 卷 期：2023年第44卷第5期

页      面：837-847页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：supported by the National Natural Science Foundation of China (82001372) National Key Research and Development Program of China (2018YFE0126700) Shanghai Jiao Tong University 2030 Initiative (WH510363001-7) Shanghai Municipal Commission of Science and Technology Program (21dz2210100) Shanghai Education Commission Research and Innovation Program (2019-01-07-00-02-E00037) a National Institutes of Health (NIH)grant (5R01HG002385)to E.E.E 

主　　题：Common marmoset(Callithrix jacchus) Population genetics Whole-genome sequencing Genetic chimerism Epilepsy Risk locus 

摘      要：The common marmoset(Callithrix jacchus)has emerged as a valuable nonhuman primate model in biomedical research with the recent release of high-quality reference genome *** marmosets have been independently reported in two Asian primate research ***,the population genetics within these primate centers and the specific genetic variants associated with epilepsy in marmosets have not yet been ***,we characterized the genetic relationships and risk variants for epilepsy in 41 samples from two epileptic marmoset pedigrees using whole-genome *** identified 14558184 single nucleotide polymorphisms(SNPs)from the 41 samples and found higher chimerism levels in blood samples than in fingernail *** analysis showed fourth-degree of relatedness among marmosets at the primate *** addition,SNP and copy number variation(CNV)analyses suggested that the WW domain-containing oxidoreductase(WWOX)and Tyrosine-protein phosphatase nonreceptor type 21(PTPN21)genes may be associated with epilepsy in ***,KCTD18-like gene deletion was more common in epileptic marmosets than control *** study provides valuable population genomic resources for marmosets in two Asian primate *** analyses identified a reasonable breeding strategy for genetic diversity maintenance in the two centers,while the case-control study revealed potential risk genes/variants associated with epilepsy in marmosets.