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Y 染色体与常染色体易位干扰减数分裂性失活和常染色体基因的表达:以猪为例的案例研究。

Y-autosome translocation interferes with meiotic sex inactivation and expression of autosomal genes: a case study in the pig.

机构信息

Laboratoire de Génétique Cellulaire, UMR 444, Institut National de la Recherche Agronomique, Université de Toulouse, Toulouse, France.

出版信息

Sex Dev. 2012;6(1-3):143-50. doi: 10.1159/000331477. Epub 2011 Sep 13.

DOI:10.1159/000331477
PMID:21921590
Abstract

Y-autosome translocations are rare in humans and pigs. In both species, these rearrangements can be responsible for meiotic arrest and subsequent infertility. Chromosome pairing abnormalities on the SSCX, SSCY and SSC1 chromatin domains were identified by analyzing pachytene spermatocytes from a boar carrying a (Y;1) translocation by immunolocalization of specific meiotic protein combined with FISH. Disturbance of the meiotic sex chromosome inactivation (MSCI) was observed by Cot-RNA-FISH and analysis of ZFY gene expression by sequential RNA- and DNA-FISH on spermatocytes. We hypothesized that the meiotic arrest observed in this boar might be due to the silencing of critical autosomal genes and/or the reactivation of some sex chromosome genes.

摘要

Y-常染色体易位在人类和猪中较为罕见。在这两种物种中,这些重排可能导致减数分裂阻滞和随后的不育。通过免疫定位特定的减数分裂蛋白结合 FISH 分析携带(Y;1)易位的公猪的粗线期精母细胞,鉴定了 SSCX、SSCY 和 SSC1 染色质域上的染色体配对异常。通过 Cot-RNA-FISH 观察减数分裂性染色体失活(MSCI)的干扰,并通过 RNA-DNA-FISH 分析顺序 RNA 和 DNA-FISH 对公猪精母细胞中 ZFY 基因表达的分析。我们假设观察到的这种公猪的减数分裂阻滞可能是由于关键常染色体基因的沉默和/或一些性染色体基因的重新激活。

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