Y chromosome microdeletions and male infertility

Classical cytogenetic mapping has identified a locus on the long arm of the human Y chromosome that is required for spermatogenesis and is termed AZF, an acronym for the hypothetical azoospermia factor encoded by this locus. Recent molecular attempts to identify the gene corresponding to this locus have revealed that there are at least three genes in three separate microdeletion intervals. Two of these microdeletion intervals contain genes encoding proteins with potential roles in RNA metabolism. These genes are members of Y-encoded gene families with autosomal homologues. The cell biology of one of these genes, RBM (an acronym of RNA binding motif), is complex and suggests a role in pre-mRNA splicing.