RBMY genes and AZFb deletions

J Endocrinol Invest. 2000 Nov;23(10):652-8. doi: 10.1007/BF03343789.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Gene Deletion
  • Gene Dosage
  • Humans
  • Infertility, Male / genetics
  • Infertility, Male / physiopathology
  • Male
  • Multigene Family / genetics
  • Nuclear Proteins
  • Oligospermia / genetics*
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / physiology
  • Y Chromosome / genetics

Substances

  • Nuclear Proteins
  • RBMY1A1 protein, human
  • RNA-Binding Proteins