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

TitleY-autosome translocation interferes with meiotic sex inactivation and expression of autosomal genes: a case study in the pig
Publication TypeJournal Article
Year of Publication2012
AuthorsBarasc, H, Mary, N, Letron, R, Calgaro, A, Dudez, AM, Bonnet, N, Lahbib-Mansais, Y, Yerle, M, Ducos, A, Pinton, A
JournalSex Dev
Volume6
Pagination143-50
KeywordsAnimals DNA Gene Silencing In Situ Hybridization, Fluorescence Karyotype Kruppel-Like Transcription Factors Male Meiosis RNA Spermatocytes Swine Swine Diseases Testis Transcription, Genetic Translocation, Genetic X Chromosome Y Chromosome
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.