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PRDM9 插入缺失突变在眼镜猴进化中的先驱作用。

The pioneering role of PRDM9 indel mutations in tarsier evolution.

机构信息

Institute of Anthropology, Johannes Gutenberg University Mainz, Anselm-Franz-von-Bentzel-Weg 7, 55128 Mainz, Germany.

Department of Zoology, State Museum of Natural History Stuttgart, Rosenstein 1, 70191 Stuttgart, Germany.

出版信息

Sci Rep. 2016 Oct 4;6:34618. doi: 10.1038/srep34618.

Abstract

PRDM9 is currently the sole speciation gene found in vertebrates causing hybrid sterility probably due to incompatible alleles. Its role in defining the double strand break loci during the meiotic prophase I is crucial for proper chromosome segregation. Therefore, the rapid turnover of the loci determining zinc finger array seems to be causative for incompatibilities. We here investigated the zinc finger domain-containing exon of PRDM9 in 23 tarsiers. Tarsiers, the most basal extant haplorhine primates, exhibit two frameshifting indels at the 5'-end of the array. The first mutation event interrupts the reading frame and function while the second compensates both. The fixation of this allele variant in tarsiers led to hypothesize that de- and reactivation of the zinc finger domain drove the speciation in early haplorhine or tarsiiform primates. Moreover, the high allelic diversity within Tarsius points to multiple effects of genetic drift reflecting their phylogeographic history since the Miocene.

摘要

PRDM9 是目前在脊椎动物中发现的唯一导致杂种不育的物种形成基因,可能是由于不相容的等位基因。它在减数分裂前期 I 中确定双链断裂位置的作用对于正确的染色体分离至关重要。因此,决定锌指结构域的位点的快速转换似乎是不相容的原因。我们在这里研究了 23 只眼镜猴的 PRDM9 锌指结构域外显子。眼镜猴是现存最原始的简鼻猴,在其基因序列的 5'端存在两个移框插入缺失。第一个突变事件中断了阅读框和功能,而第二个突变事件则同时补偿了这两者。这种等位基因变体在眼镜猴中的固定,导致了这样一种假说,即锌指结构域的去激活和再激活驱动了早期简鼻猴或跗猴类灵长类动物的物种形成。此外,Tarsius 中的高等位基因多样性表明遗传漂变的多种影响,反映了它们自中新世以来的系统发育历史。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9259/5048142/d9123895e373/srep34618-f1.jpg

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