Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Mol Biol Evol. 2020 Sep 1;37(9):2655-2660. doi: 10.1093/molbev/msaa119.
The hormone progesterone is important for preparing the uterine lining for egg implantation and for maintaining the early stages of pregnancy. The gene encoding the progesterone receptor (PGR) carries introgressed Neandertal haplotypes with two missense substitutions and a mobile Alu element. These Neandertal gene variants have reached nearly 20% frequency in non-Africans and have been associated with preterm birth. Here, we show that one of the missense substitutions appears fixed in Neandertals, while the other substitution as well as the Alu insertion were polymorphic among Neandertals. We show that two Neandertal haplotypes carrying the PGR gene entered the modern human population and that present-day carriers of the Neandertal haplotypes express higher levels of the receptor. In a cohort of present-day Britons, these carriers have more siblings, fewer miscarriages, and less bleeding during early pregnancy suggesting that the Neandertal progesterone receptor alleles promote fertility. This may explain their high frequency in modern human populations.
孕激素对于子宫内膜接受受精卵着床以及维持妊娠早期非常重要。编码孕激素受体（PGR）的基因携带有两个错义替换和一个可移动的 Alu 元件的已同化尼安德特人单倍型。这些尼安德特人基因变体在非非洲人中的频率已接近 20%，并与早产有关。在这里，我们表明，其中一个错义替换似乎在尼安德特人中是固定的，而另一个替换以及 Alu 插入在尼安德特人中是多态的。我们表明，两个携带 PGR 基因的尼安德特人单倍型进入了现代人类群体，并且当今携带尼安德特人单倍型的人表达更高水平的受体。在一组当代英国人中，这些携带者有更多的兄弟姐妹，更少的流产，以及妊娠早期出血较少，这表明尼安德特人的孕激素受体等位基因促进了生育能力。这可以解释它们在现代人类群体中的高频率。
