Journal of Endocrinological Investigation

, Volume 23, Issue 10, pp 652–658 | Cite as

RBMY genes and AZFb deletions

  • David J. ElliottEmail author


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.


Azoospermia factor infertility RNA binding proteins pre-mRNA splicing 


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Copyright information

© Italian Society of Endocrinology (SIE) 2000

Authors and Affiliations

  1. 1.MRC Human Genetics UnitWestern General HospitalUK
  2. 2.Institute for Human GeneticsUniversity of Newcastle Upon TyneNewcastleUK

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