小柯机器人

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科学家发现影响身高的新基因
2020-05-15 23:56
来源：小柯机器人

美国哈佛大学Soumya Raychaudhuri研究团队的最新工作表明，FBN1基因错义变异体可降低秘鲁人的身高。相关论文于2020年5月13日在线发表在《自然》杂志上。

研究人员发现，美洲原住民血统与秘鲁不同种族群体的身高降低有关，并确定了特定于人群的FBN1基因错义变体（E1297G），该变体与更低的身高显著相关。次要等位基因的每个拷贝（频率为4.7％）使身高降低2.2厘米（纯合子为4.4厘米）。研究人员认为，这是常见与身高相关变体中已知的最大效果。FBN1编码细胞外基质蛋白原纤维蛋白1，它是微原纤维的主要结构成分。
 
研究人员观察到，与E1297纯合的个体相比，边缘不规则且密度较低的纤维原蛋白-1富集微纤维在G1297纯合的个体在皮肤中堆积。此外，研究人员表明，E1297G基因座在非非洲人群中处于正向选择状态，而E1297变体只在秘鲁人群中存在正向选择。与秘鲁安第斯山脉或亚马逊河流域的人口相比，这种变异在秘鲁沿海人口中也更为常见，这表明身材矮小可能是由于对秘鲁沿海环境相关因素的适应。
 
附：英文原文

Title: A positively selected FBN1 missense variant reduces height in Peruvian individuals

Author: Samira Asgari, Yang Luo, Ali Akbari, Gillian M. Belbin, Xinyi Li, Daniel N. Harris, Martin Selig, Eric Bartell, Roger Calderon, Kamil Slowikowski, Carmen Contreras, Rosa Yataco, Jerome T. Galea, Judith Jimenez, Julia M. Coit, Chandel Farroay, Rosalynn M. Nazarian, Timothy D. OConnor, Harry C. Dietz, Joel N. Hirschhorn, Heinner Guio, Leonid Lecca, Eimear E. Kenny, Esther E. Freeman, Megan B. Murray, Soumya Raychaudhuri

Issue&Volume: 2020-05-13

Abstract: On average, Peruvian individuals are among the shortest in the world1. Here we show that Native American ancestry is associated with reduced height in an ethnically diverse group of Peruvian individuals, and identify a population-specific, missense variant in the FBN1 gene (E1297G) that is significantly associated with lower height. Each copy of the minor allele (frequency of 4.7%) reduces height by 2.2 cm (4.4 cm in homozygous individuals). To our knowledge, this is the largest effect size known for a common height-associated variant. FBN1 encodes the extracellular matrix protein fibrillin 1, which is a major structural component of microfibrils. We observed less densely packed fibrillin-1-rich microfibrils with irregular edges in the skin of individuals who were homozygous for G1297 compared with individuals who were homozygous for E1297. Moreover, we show that the E1297G locus is under positive selection in non-African populations, and that the E1297 variant shows subtle evidence of positive selection specifically within the Peruvian population. This variant is also significantly more frequent in coastal Peruvian populations than in populations from the Andes or the Amazon, which suggests that short stature might be the result of adaptation to factors that are associated with the coastal environment in Peru.

DOI: 10.1038/s41586-020-2302-0

Source: https://www.nature.com/articles/s41586-020-2302-0

Nature：《自然》，创刊于1869年。隶属于施普林格·自然出版集团，最新IF：69.504
官方网址：http://www.nature.com/
投稿链接：http://www.nature.com/authors/submit_manuscript.html


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