RBMY genes and AZFb deletions.
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.
Elliott
D J
DJ
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK. david.elliott@ncl.ac.uk
D000818:Animals; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D007248:Infertility, Male / Q000235:genetics / Q000503:physiopathology; D008297:Male; D005810:Multigene Family / Q000235:genetics; D009687:Nuclear Proteins; D009845:Oligospermia / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D014998:Y Chromosome / Q000235:genetics
D009687:Nuclear Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins