The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species
The Pseudoautosomal Region and Sex Chromosome Aneuploidies in Domestic Species
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DOI：
10.1159/000330627
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发表时间：
2012-01-01
影响因子：
2.3
通讯作者：
Chowdhary, B. P.
中科院分区：
文献类型：
--
作者：
Raudsepp, T.;Das, P. J.;Chowdhary, B. P.
假常染色体区是哺乳动物性染色体上的一个独特的特化片段，在雄性减数分裂和生育中具有已知的功能。对人类和小鼠该区域的详细分子研究表明，这两个PARs之间存在显著差异。最近对马、狗/猫、牛/反刍动物、猪和羊驼的定位工作表明，PAR在其他物种之间的大小和基因含量也不同。鉴于PAR基因逃脱了X失活，这些差异可能会严重影响遗传后果，如胚胎存活和出生后性染色体非整倍体的表型。本综述的目的是将有关家养物种PAR组织的现有信息与性染色体非整倍体的细胞遗传学数据相结合。我们发现，在PAR较小的物种中，可存活的XO个体相对频繁地被发现，如马、人类和老鼠，但在PAR显著较大的物种中很少或不存在，如牛/反刍动物、狗、猪和羊驼。在不同物种中，PAR大小与X染色体三体之间没有发现相似的相关性。最近的证据表明，PAR基因可能参与胎盘的形成、早期胚胎发育和基因组印记。版权所有(C)2011 S.Karger AG，巴塞尔
The pseudoautosomal region (PAR) is a unique and specialized segment on the mammalian sex chromosomes with known functions in male meiosis and fertility. Detailed molecular studies of the region in human and mouse show dramatic differences between the 2 PARs. Recent mapping efforts in horse, dog/cat, cattle/ruminants, pig and alpaca indicate that the PAR also varies in size and gene content between other species. Given that PAR genes escape X inactivation, these differences might critically affect the genetic consequences, such as embryonic survival and postnatal phenotypes of sex chromosome aneuploidies. The aim of this review is to combine the available information about the organization of the PAR in domestic species with the cytogenetic data on sex chromosome aneuploidies. We show that viable XO individuals are relatively frequently found in species with small PARs, such as horses, humans and mice but are rare or absent in species in which the PAR is substantially larger, like in cattle/ruminants, dogs, pigs, and alpacas. No similar correlation can be detected between the PAR size and the X chromosome trisomy in different species. Recent evidence about the likely involvement of PAR genes in placenta formation, early embryonic development and genomic imprinting are presented. Copyright (C) 2011 S. Karger AG, Basel