Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia.
Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia.
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亚洲热带土著民族的遗传联系和趋同进化
DOI：
10.1093/molbev/msab361
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发表时间：
2022-02-03
影响因子：
10.7
通讯作者：
Xu S
中科院分区：
文献类型：
--
作者：
Deng L;Pan Y;Wang Y;Chen H;Yuan K;Chen S;Lu D;Lu Y;Mokhtar SS;Rahman TA;Hoh BP;Xu S
摘要 亚洲热带原住民（TIA）因其独特的外貌而备受关注，但其遗传历史和适应性进化仍然是个谜。我们进行了一项全面的研究来描述广泛地理 TIA 的遗传区别和联系。尽管 TIA 群体之间的基因组成多样且区域间遗传差异较大，但我们还是确定了这些群体特有的亚洲基础血统 (bASN)。 bASN 祖先在早在距今 5 万年前的古代亚洲人类基因组中相对丰富，但在最近的历史中逐渐减少。值得注意的是，bASN 祖先不太可能源自古人类。相反，我们建议将其更好地建模为亚洲最初人类的幸存血统。在 TIA 群体中检测到了从古代亚洲血统遗传而来的共同适应性（例如，用于毛发形态的 LIMS1 和用于骨骼形成的 COL24A1），并且它们在相同基因座（例如 NKAIN3）或同一基因的不同基因座（例如 TENM4）上丰富的神经功能。 bASN 祖先也可能形成了 TIA 人群中观察到的深色色素沉着遗传结构的基础。我们假设 TIA 中深色色素沉着的表型趋同可能是由平行（例如 DDB1/DAK）或混合驱动的遗传趋同（例如 MTHFD1 和 RAD18）、新突变（例如 STK11）或显着的纯化选择（例如 MC1R）引起的。我们的研究结果为亚洲最初的人类提供了新的见解，并为 TIA 人类的表型趋同提供了深入的了解。
Abstract Tropical indigenous peoples in Asia (TIA) attract much attention for their unique appearance, whereas their genetic history and adaptive evolution remain mysteries. We conducted a comprehensive study to characterize the genetic distinction and connection of broad geographical TIAs. Despite the diverse genetic makeup and large interarea genetic differentiation between the TIA groups, we identified a basal Asian ancestry (bASN) specifically shared by these populations. The bASN ancestry was relatively enriched in ancient Asian human genomes dated as early as ∼50,000 years before the present and diminished in more recent history. Notably, the bASN ancestry is unlikely to be derived from archaic hominins. Instead, we suggest it may be better modeled as a survived lineage of the initial peopling of Asia. Shared adaptations inherited from the ancient Asian ancestry were detected among the TIA groups (e.g., LIMS1 for hair morphology, and COL24A1 for bone formation), and they are enriched in neurological functions either at an identical locus (e.g., NKAIN3), or different loci in an identical gene (e.g., TENM4). The bASN ancestry could also have formed the substrate of the genetic architecture of the dark pigmentation observed in the TIA peoples. We hypothesize that phenotypic convergence of the dark pigmentation in TIAs could have resulted from parallel (e.g., DDB1/DAK) or genetic convergence driven by admixture (e.g., MTHFD1 and RAD18), new mutations (e.g., STK11), or notably purifying selection (e.g., MC1R). Our results provide new insights into the initial peopling of Asia and an advanced understanding of the phenotypic convergence of the TIA peoples.
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影响因子：
9.8
作者：
Dannemann M;Kelso J
通讯作者：
Kelso J
影响因子：
16.6
作者：
Adhikari K;Fuentes-Guajardo M;Quinto-Sánchez M;Mendoza-Revilla J;Camilo Chacón-Duque J;Acuña-Alonzo V;Jaramillo C;Arias W;Lozano RB;Pérez GM;Gómez-Valdés J;Villamil-Ramírez H;Hunemeier T;Ramallo V;Silva de Cerqueira CC;Hurtado M;Villegas V;Granja V;Gallo C;Poletti G;Schuler-Faccini L;Salzano FM;Bortolini MC;Canizales-Quinteros S;Cheeseman M;Rosique J;Bedoya G;Rothhammer F;Headon D;González-José R;Balding D;Ruiz-Linares A
通讯作者：
Ruiz-Linares A
影响因子：
3.3
作者：
Aghakhanian F;Yunus Y;Naidu R;Jinam T;Manica A;Hoh BP;Phipps ME
通讯作者：
Phipps ME
使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
14.9
作者：
Chen J;Bardes EE;Aronow BJ;Jegga AG
通讯作者：
Jegga AG