A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia

Abstract

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.

Y chromosome and male infertility: Update, 2006

“…hypospermatogenesis indicates that this gene, USP9Y, is probably not essential for the initiation and completion of spermatogenesis and it has probably a role in enhancing the quality and efficiency of spermatogenesis. Other authors have also reported single gene deletions (DBY, USP9Y, HSF-Y) however these studies did not define the deletion breakpoints (53,54). Since polymorphisms, rearrangements may lead to false deletions these data await further confirmation.…”

A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype

“…A study conducted by Vinci et al (33) associated the deletion of a novel heat shock factor Y (HSFY) with azoospermia. The underlying genetic factors affecting severe male factor infertility associated with either azoospermia or oligozoospermia largely remain unknown in a considerable percentage of men diagnosed with infertility (32).…”

Polymorphismes du chromosome Y et fertilité masculine

“…La seconde, nommée b1/b3, a été observée chez un seul individu sur 689 étudiés (dont 473 avec une spermatogenèse défi-ciente connue) et la corrélation avec l'infertilité n'est pas encore bien établie [28]. Enfin, une autre délétion partielle chez un individu azoospermique a été décrite dans le palindrome P4 d'AZFb entraînant la perte du gène HSFY (Heat Shock Transcription Factor, Y-linked), tout en préservant des gènes impliqués dans la spermatogenèse, en particulier RBMY1 [36].…”