Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes
Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes
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DOI：
10.1093/molbev/msz282
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发表时间：
2020-04-01
影响因子：
10.7
通讯作者：
Moreno-Estrada, Andres
中科院分区：
文献类型：
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作者：
Avila-Arcos, Maria C.;McManus, Kimberly F.;Moreno-Estrada, Andres
在大多数人类基因组测序数据目录中，美洲原住民的基因变异仍然没有得到充分的反映。以前的基因分型工作表明，墨西哥的土著人口是高度分化和亚结构的，因此潜在地拥有更高比例的具有功能和生物医学相关性的私人遗传变异。在这里，我们以基因组的编码部分为目标，并通过对墨西哥五个土著群体的76个外显子进行测序来表征其全站点频率谱。使用扩散近似，我们模拟了墨西哥土著人口的人口历史，北部和南部民族分裂为7.2Kya，随后分别在当地分化为6.5Kya和5.7Kya。对正选择的选择扫描显示，BCL2L13和KBTBD8基因分别是Raramuris和Triquis的适应进化的潜在候选基因。BCL2L13在骨骼肌中高度表达，可能与身体耐力有关，身体耐力是墨西哥北部Raramuri的一种著名表型。KBTBD8基因与特发性矮小有关，我们发现它在Triqui中分化很高，Triqui是来自瓦哈卡的一个南方土著群体，与其他土著群体相比，他们的身高非常低。
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.