The hormone progesterone is important for preparing the uterine lining for egg implantation and in maintaining the early stages of pregnancy. The gene encoding the progesterone receptor (PGR) carries introgressed Neandertal haplotypes with two non-synonymous substitutions and a mobile Alu element. They have reached nearly 20% frequency in non-Africans and have been associated with preterm birth. Here we show that whereas one of the missense substitutions appears fixed among Neandertals, 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 it promotes fertility. This may explain the high frequency of the Neandertal progesterone receptor alleles in modern human populations.

中文翻译：

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尼安德特人黄体酮受体。


黄体酮激素对于子宫内膜为卵子着床做好准备以及维持妊娠早期非常重要。编码黄体酮受体 (PGR) 的基因携带渐渗的尼安德特人单倍型，具有两个非同义取代和一个移动 Alu 元件。在非非洲人中，这种情况的发生率接近 20%，并且与早产有关。在这里，我们表明，虽然其中一个错义替换在尼安德特人中似乎是固定的，但另一个替换以及 Alu 插入在尼安德特人中是多态性的。我们表明，携带 PGR 基因的两种尼安德特人单倍型进入了现代人类群体，并且当今尼安德特人单倍型的携带者表达了更高水平的受体。在当今的英国人群体中，这些携带者有更多的兄弟姐妹、更少的流产和更少的怀孕早期出血，这表明它可以促进生育能力。这可能解释了现代人类中尼安德特人孕酮受体等位基因的高频率。