K. Ma et al., A Y-CHROMOSOME GENE FAMILY WITH RNA-BINDING PROTEIN HOMOLOGY - CANDIDATES FOR THE AZOOSPERMIA FACTOR AZF CONTROLLING HUMAN SPERMATOGENESIS, Cell, 75(7), 1993, pp. 1287-1295
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.