期刊
MOLECULAR BIOLOGY AND EVOLUTION
卷 37, 期 4, 页码 994-1006出版社
OXFORD UNIV PRESS
DOI: 10.1093/molbev/msz282
关键词
Native Americans; exome sequencing; demographic inference; adaptive evolution
资金
- Beijing Genomics Institute
- Stanford Center for Computational, Evolutionary and Human Genomics (CEHG)
- Mexico's CONACYT Basic Research Program [CB-2015-01-251380]
- International Center for Genetic Engineering and Biotechnology (ICGEB) [CRP/MEX15-04_EC]
- Programa de Apoyo a Proyectos de Investigacion e Innovacion Tecnologica, Universidad Nacional Autonoma de Mexico [IA206817]
- CONACYT Infrastructure [26944]
Native American genetic variation remains underrepresented in most catalogs of human genome sequencing data. Previous genotyping efforts have revealed that Mexico's Indigenous population is highly differentiated and substructured, thus potentially harboring higher proportions of private genetic variants of functional and biomedical relevance. Here we have targeted the coding fraction of the genome and characterized its full site frequency spectrum by sequencing 76 exomes from five Indigenous populations across Mexico. Using diffusion approximations, we modeled the demographic history of Indigenous populations from Mexico with northern and southern ethnic groups splitting 7.2 KYA and subsequently diverging locally 6.5 and 5.7 KYA, respectively. Selection scans for positive selection revealed BCL2L13 and KBTBD8 genes as potential candidates for adaptive evolution in Raramuris and Triquis, respectively. BCL2L13 is highly expressed in skeletalmuscle and could be related to physical endurance, a well-known phenotype of the northernMexico Raramuri. The KBTBD8 gene has been associated with idiopathic short stature and we found it to be highly differentiated in Triqui, a southern Indigenous group from Oaxaca whose height is extremely low compared to other Native populations.
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