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鸟类的 W 染色体是内源性逆转录病毒的避难所,可能对雌性偏性突变负荷和遗传不相容性产生影响。

The avian W chromosome is a refugium for endogenous retroviruses with likely effects on female-biased mutational load and genetic incompatibilities.

机构信息

Department of Organismal Biology-Systematic Biology, Uppsala University, Uppsala, Sweden.

MOE Laboratory of Biosystems Homeostasis and Protection, Life Sciences Institute, Zhejiang University, Hangzhou, People's Republic of China.

出版信息

Philos Trans R Soc Lond B Biol Sci. 2021 Sep 13;376(1833):20200186. doi: 10.1098/rstb.2020.0186. Epub 2021 Jul 26.

Abstract

It is a broadly observed pattern that the non-recombining regions of sex-limited chromosomes (Y and W) accumulate more repeats than the rest of the genome, even in species like birds with a low genome-wide repeat content. Here, we show that in birds with highly heteromorphic sex chromosomes, the W chromosome has a transposable element (TE) density of greater than 55% compared to the genome-wide density of less than 10%, and contains over half of all full-length (thus potentially active) endogenous retroviruses (ERVs) of the entire genome. Using RNA-seq and protein mass spectrometry data, we were able to detect signatures of female-specific ERV expression. We hypothesize that the avian W chromosome acts as a refugium for active ERVs, probably leading to female-biased mutational load that may influence female physiology similar to the 'toxic-Y' effect in males. Furthermore, Haldane's rule predicts that the heterogametic sex has reduced fertility in hybrids. We propose that the excess of W-linked active ERVs over the rest of the genome may be an additional explanatory variable for Haldane's rule, with consequences for genetic incompatibilities between species through TE/repressor mismatches in hybrids. Together, our results suggest that the sequence content of female-specific W chromosomes can have effects far beyond sex determination and gene dosage. This article is part of the theme issue 'Challenging the paradigm in sex chromosome evolution: empirical and theoretical insights with a focus on vertebrates (Part II)'.

摘要

这是一个广泛观察到的模式,即性限染色体(Y 和 W)的非重组区域比基因组的其他部分积累了更多的重复序列,即使在基因组重复序列含量较低的鸟类等物种中也是如此。在这里,我们表明在性染色体高度异型的鸟类中,W 染色体的转座元件(TE)密度大于 55%,而整个基因组的 TE 密度小于 10%,并且包含了整个基因组中超过一半的全长(因此可能具有活性)内源性逆转录病毒(ERVs)。使用 RNA-seq 和蛋白质质谱数据,我们能够检测到雌性特异性 ERV 表达的特征。我们假设鸟类的 W 染色体充当了活性 ERV 的避难所,可能导致雌性偏向的突变负荷,类似于雄性中的“毒性-Y”效应,从而影响雌性生理。此外,Haldane 法则预测异配性别在杂种中的生育能力降低。我们提出,W 连锁的活性 ERV 超过基因组其余部分的过剩可能是 Haldane 法则的另一个解释变量,对杂种中 TE/抑制剂不匹配的物种间遗传不相容性有影响。总之,我们的研究结果表明,雌性特异性 W 染色体的序列内容可能会对性别决定和基因剂量以外的方面产生影响。本文是主题为“挑战性染色体进化的范式:以脊椎动物为重点的实证和理论见解(第二部分)”的一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac39/8310711/570a3314a2f7/rstb20200186f01.jpg

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