Racimo Fernando, Gokhman David, Fumagalli Matteo, Ko Amy, Hansen Torben, Moltke Ida, Albrechtsen Anders, Carmel Liran, Huerta-Sánchez Emilia, Nielsen Rasmus
Department of Integrative Biology, University of California Berkeley, Berkeley, CA.
Department of Genetics, The Alexander Silberman Institute of Life Sciences, Faculty of Science, The Hebrew University of Jerusalem, Edmond J. Safra Campus, Givat Ram, Jerusalem, Israel.
Mol Biol Evol. 2017 Mar 1;34(3):509-524. doi: 10.1093/molbev/msw283.
A recent study conducted the first genome-wide scan for selection in Inuit from Greenland using single nucleotide polymorphism chip data. Here, we report that selection in the region with the second most extreme signal of positive selection in Greenlandic Inuit favored a deeply divergent haplotype that is closely related to the sequence in the Denisovan genome, and was likely introgressed from an archaic population. The region contains two genes, WARS2 and TBX15, and has previously been associated with adipose tissue differentiation and body-fat distribution in humans. We show that the adaptively introgressed allele has been under selection in a much larger geographic region than just Greenland. Furthermore, it is associated with changes in expression of WARS2 and TBX15 in multiple tissues including the adrenal gland and subcutaneous adipose tissue, and with regional DNA methylation changes in TBX15.
最近的一项研究利用单核苷酸多态性芯片数据，对来自格陵兰岛的因纽特人进行了首次全基因组选择扫描。在此，我们报告称，在格陵兰因纽特人正选择信号第二极端的区域中，选择青睐一种与丹尼索瓦人基因组序列密切相关、差异很大的单倍型，并且该单倍型可能是从一个古代种群渗入的。该区域包含两个基因，WARS2和TBX15，并且此前已被证明与人类脂肪组织分化和体脂分布有关。我们发现，这种适应性渗入的等位基因在比格陵兰岛大得多的地理区域内受到选择。此外，它与包括肾上腺和皮下脂肪组织在内的多个组织中WARS2和TBX15的表达变化有关，也与TBX15的区域DNA甲基化变化有关。
