A Y-CHROMOSOME GENE FAMILY WITH RNA-BINDING PROTEIN HOMOLOGY - CANDIDATES FOR THE AZOOSPERMIA FACTOR AZF CONTROLLING HUMAN SPERMATOGENESIS

We have previously mapped the human azoospermia factor to a deletion i n Y chromosome interval 6 (subinterval XII-XIV). We now report the iso lation and characterization of a gene family located within this delet ion. Analysis of the predicted protein products suggests a possible ro le in RNA processing or translational control during early spermatogen esis. The Y chromosome RNA recognition motif (YRRM) family includes a minimum of three members expressed specifically in the testis. Interph ase in situ results and Southern blot analysis indicate that several f urther YRRM sequences map within interval 6. Several mammalian species show Y chromosome conservation of YRRM sequences. We have detected de letions of YRRM sequences in two oligospermic patients with no previou sly detectable mutation.