Elliott D J
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
J Endocrinol Invest. 2000 Nov;23(10):652-8. doi: 10.1007/BF03343789.
Microdeletions of the AZFb region of the human Y chromosome usually result in severe consequences for spermatogenesis. AZFb contains at least four kinds of genes/gene families. These include a number of RBMY genes, which are clustered in the AZFb deletion interval. They are amongst the oldest genes on the mammalian Y chromosome, and are related to the gene encoding hnRNPG (RBMX) on the X chromosome. A retroposon-derived version of these genes is found on chromosome 11 that might replace the function of these genes during meiosis, during which time the X and Y chromosomes are transcriptionally inactivated. Each of these genes encodes proteins with an RNA binding motif, and interacts with more ubiquitously expressed proteins involved in pre-mRNA splice site selection. These findings imply that important pre-mRNA processing pathways might be disrupted in the germ cells of AZFb men.
人类Y染色体AZFb区域的微缺失通常会对精子发生造成严重后果。AZFb至少包含四种基因/基因家族。其中包括多个RBMY基因，它们聚集在AZFb缺失区间内。它们是哺乳动物Y染色体上最古老的基因之一，并且与X染色体上编码hnRNPG（RBMX）的基因相关。在11号染色体上发现了这些基因的逆转座子衍生版本，它可能在减数分裂期间取代这些基因的功能，在此期间X和Y染色体转录失活。这些基因中的每一个都编码具有RNA结合基序的蛋白质，并与参与前体mRNA剪接位点选择的更广泛表达的蛋白质相互作用。这些发现表明，AZFb缺失男性的生殖细胞中重要的前体mRNA加工途径可能会受到干扰。
