Mol. Hum. Reprod. Advance Access originally published online on February 25, 2005
Molecular Human Reproduction 2005 11(4):295-298; doi:10.1093/molehr/gah153
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A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia
1Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France, 2Institute of Genetics, University of Bucharest, Aleea Portocalelor, nr 1–3, Bucharest and 3Genetics Department, University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania
4 To whom correspondence should be addressed at: Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
Deletions of the Y chromosome are a significant cause of spermatogenic failure. Three major deletion intervals have been defined and termed AZFa, AZFb and AZFc. Here, we report an unusual case of a proximal AZFb deletion that includes the Y chromosome palindromic sequence P4 and a novel heat shock factor (HSFY). This deletion neither include the genes EIF1AY, RPS4Y2 nor copies of the RBMY1 genes. The individual presented with idiopathic azoospermia. We propose that deletions of the testis-specific HSFY gene family may be a cause of unexplained cases of idiopathic male infertility. This deletion would not have been detected using current protocols for Y chromosome microdeletion screens, therefore we recommend that current screening protocols be extended to include this region and other palindrome sequences that contain genes expressed specifically in the testis.
Key words: AZFb/heat shock gene/male infertility/Y chromosome