Spermatogenesis-Specific Genes Deleted in Infertile Men: DAZ/DAZH Clinical Aspects and Animal Models

作者: J. Gromoll , M. Simoni , G. F. Weinbauer , E. Nieschlag

DOI: 10.1007/978-3-662-03671-6_14

关键词: Testis determining factorPloidyPseudoautosomal regionHeterochromatinGeneticsBiologyAzoospermia factorHuman genomeAutosomeChromosome

摘要: The XY sex chromosomes are found in a multitude of species throughout the animal kingdom. During evolution Y- chromosome, as X-chromosome, evolved from an autosomal chromosome. In human it represents only 2% haploid genome and is smallest among 24 chromosomes. It can be divided into pseudoautosomal regions nonrecombining region (NRY). exist on both X- therefore easily recom-bine. NRY euchromatic heterochromatic half. compartment genome, since does not recombine, rearrangements (i.e., inversions, duplications) within this fully transmitted through meiosis (Lahn Page 1997). Consequently, repetitive sequences shuffled arrangements accumulate. Genes so far TSPY (Arnemann et al. 1991) RBM (Ma 1993) themselves repeated. Of genes previously cloned most prominent one SRY (sex determining Y-chromosome) which crucial for testis formation (Sinclair 1990). Whereas all described until now derive region, no gene has been region.

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