与图尔卡纳社区合作，该课题组人员对367个全基因组进行了测序，并确定了8个具有近期正选择证据的区域。其中一个区域包括STC1-一种参与代谢和脱水反应的肾表达基因的推定调控元件。该研究团队发现STC1是由人类细胞中的抗利尿激素诱导的，与图尔卡纳人自身的尿素水平有关，并且在该人群以及第二个东非人群Daasanach中受到强烈和近期的选择。这项工作强调了如何整合人类学和基因组学方法可以导致与生物医学相关的人类生理学的新理解。
据悉，肯尼亚的图尔卡纳牧民居住在干旱、缺水的环境中，主要依靠牲畜为生。
附：英文原文
Title: Adaptations to water stress and pastoralism in the Turkana of northwest Kenya
Author: A. J. Lea, I. V. Caldas, K. M. Garske, E. R. Gerlinger, J. P. Arroyo, J. Echwa, M. Gurven, C. Handley, J. C. Kahumbu, J. Kamau, P. Kinyua, F. Lotukoi, A. Lopurudoi, S. Lowasa, S. N. Njeru, R. Mallarino, D. J. Martins, P. W. Messer, C. Miano, B. Muhoya, J. Peng, T. Phung, J. D. Rabinowitz, A. Roichman, R. Siford, A. C. Stone, A. M. Taravella Oill, S. Mathew, M. A. Wilson, J. F. Ayroles
Issue&Volume: 2025-09-18
Abstract: The Turkana pastoralists of Kenya inhabit arid, water-limited environments and rely largely on livestock for subsistence. Working with Turkana communities, we sequenced 367 whole genomes and identified eight regions with evidence for recent positive selection. One of these regions includes a putative regulatory element for STC1—a kidney-expressed gene involved in metabolism and the response to dehydration. We show that STC1 is induced by antidiuretic hormone in human cells, is associated with urea levels in the Turkana themselves, and is under strong and recent selection in this population as well as a second East African population, the Daasanach. This work highlights how integrating anthropological and genomic approaches can lead to a new understanding of human physiology with biomedical relevance.
DOI: adv2467
Source: https://www.science.org/doi/10.1126/science.adv2467