Genetics of Male Infertility - Y-Chromosome Microdeletions

Y-Chromosome Microdeletions

AZFb and candidate genes:

AZFb locus spans about 1.5 Mb of the Y chromosome.

Two important candidate gene families that have been mapped on the AZFb locus are EIF1AY (translation initiation factor 1 A, Y isoform) and RBMY (RNA binding motif on Y).

EIF1AY encodes a ubiquitously expressed translation initiation factor. However it also possesses abundant testis-specific transcripts.

RBMY is a multicopy gene family thought to consist of 30-40 members, some of which are pseudogenes. Numerous RBMY genes have been detected across both arms of the Y chromosome. However, only genes within AZFb, produce detectable levels of the protein. These proteins contain an RNA- binding motif.