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-Haplotypes 的复杂历史和分化模式,一种小鼠减数分裂驱动。

Complex History and Differentiation Patterns of the -Haplotype, a Mouse Meiotic Driver.

机构信息

Institute of Science and Technology Austria, 3400 Klosterneuburg, Austria.

Institute of Science and Technology Austria, 3400 Klosterneuburg, Austria

出版信息

Genetics. 2018 Jan;208(1):365-375. doi: 10.1534/genetics.117.300513. Epub 2017 Nov 14.

Abstract

The -haplotype, a mouse meiotic driver found on chromosome 17, has been a model for autosomal segregation distortion for close to a century, but several questions remain regarding its biology and evolutionary history. A recently published set of population genomics resources for wild mice includes several individuals heterozygous for the -haplotype, which we use to characterize this selfish element at the genomic and transcriptomic level. Our results show that large sections of the -haplotype have been replaced by standard homologous sequences, possibly due to occasional events of recombination, and that this complicates the inference of its history. As expected for a long genomic segment of very low recombination, the -haplotype carries an excess of fixed nonsynonymous mutations compared to the standard chromosome. This excess is stronger for regions that have not undergone recent recombination, suggesting that occasional gene flow between the and the standard chromosome may provide a mechanism to regenerate coding sequences that have accumulated deleterious mutations. Finally, we find that -complex genes with altered expression largely overlap with deleted or amplified regions, and that carrying a -haplotype alters the testis expression of genes outside of the -complex, providing new leads into the pathways involved in the biology of this segregation distorter.

摘要
  • 单倍型是在 17 号染色体上发现的一种小鼠减数分裂驱动因子,近一个世纪以来一直是常染色体分离扭曲的模型,但关于其生物学和进化历史仍有几个问题。最近发表的一组野生小鼠群体基因组学资源包括几个杂合 - 单倍型的个体,我们利用这些个体在基因组和转录组水平上对这个自私元件进行了特征描述。我们的结果表明,- 单倍型的大部分已经被标准同源序列取代,可能是由于偶尔发生的重组事件,这使得对其历史的推断变得复杂。正如非常低重组的长基因组片段所预期的那样,- 单倍型与标准染色体相比携带了过多的固定非同义突变。对于最近没有发生重组的区域,这种过剩更为强烈,这表明- 单倍型和标准染色体之间偶尔的基因流可能提供了一种机制来再生积累有害突变的编码序列。最后,我们发现表达发生改变的 - 复合体基因与缺失或扩增区域大部分重叠,携带 - 单倍型会改变 - 复合体以外的基因在睾丸中的表达,为参与这种分离扭曲因子生物学的途径提供了新的线索。
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/35a3/5753869/0afbc54caa63/365fig1.jpg

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