该课题组人员研究MUC19基因,一些现代人携带类似丹尼索瓦人的单倍型。MUC19是一种粘蛋白,是一种形成具有多种生物功能的凝胶的糖蛋白。课题组发现与丹尼索瓦人相似的MUC19单倍型的诊断变异在混合的美洲个体中频率很高,在23个古代美洲土著个体中频率最高,这些个体都是在与欧洲人和非洲人混合之前。课题组人员发现,Denisovan样MUC19单倍型处于正选择状态,并且携带一个30碱基对可变数串联重复序列的较高拷贝数,并且该重复序列的拷贝数在美洲混合人群中非常高。最后,小组发现一些尼安德特人携带类似丹尼索瓦人的MUC19单倍型,并且它很可能是通过尼安德特人的渗入而不是丹尼索瓦人的渗入渗入到现代人群中。
附:英文原文
Title: The MUC19 gene: An evolutionary history of recurrent introgression and natural selection
Author: Fernando A. Villanea, David Peede, Eli J. Kaufman, Valeria Aorve-Garibay, Elizabeth T. Chevy, Viridiana Villa-Islas, Kelsey E. Witt, Roberta Zeloni, Davide Marnetto, Priya Moorjani, Flora Jay, Paul N. Valdmanis, María C. ávila-Arcos, Emilia Huerta-Sánchez
Issue&Volume: 2025-08-21
Abstract: We study the gene MUC19, for which some modern humans carry a Denisovan-like haplotype. MUC19 is a mucin, a glycoprotein that forms gels with various biological functions. We find diagnostic variants for the Denisovan-like MUC19 haplotype at high frequencies in admixed American individuals and at highest frequency in 23 ancient Indigenous American individuals, all pre-dating population admixture with Europeans and Africans. We find that the Denisovan-like MUC19 haplotype is under positive selection and carries a higher copy number of a 30–base-pair variable number tandem repeat, and that copy numbers of this repeat are exceedingly high in admixed American populations. Finally, we find that some Neanderthals carry the Denisovan-like MUC19 haplotype, and that it was likely introgressed into modern human populations through Neanderthal introgression rather than Denisovan introgression.
DOI: adl0882
Source: https://www.science.org/doi/10.1126/science.adl0882