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RBMY genes and AZFb deletions

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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.

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Authors and Affiliations

  1. MRC Human Genetics Unit, Western General Hospital, Crewe Road, UK

    David J. Elliott

  2. Institute for Human Genetics, University of Newcastle Upon Tyne, Newcastle, UK

    David J. Elliott

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  1. David J. Elliott
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Correspondence to David J. Elliott.

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Elliott, D.J. RBMY genes and AZFb deletions. J Endocrinol Invest 23, 652–658 (2000). https://doi.org/10.1007/BF03343789

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