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DFFRY  (the Y-linked homologue of the  DFFRX Drosophila  fat-facets related X gene) maps to proximal Yq11.2 within the interval defining the AZFa spermatogenic phenotype. The complete coding region of  DFFRY  has been sequenced and shows 89% identity to the X-linked gene at the nucleotide level. In common with  DFFRX , the potential amino acid sequence contains the conserved Cys and His domains characteristic of ubiquitin C-terminal hydrolases. The human DFFRY mRNA is expressed in a wide range of adult and embryonic tissues, including testis, whereas the homologous mouse  Dffry  gene is expressed specifically in the testis. Analysis of three azoospermic male patients has shown that  DFFRY  is deleted from the Y chromosome in these individuals. Two patients have a testicular phenotype which resembles Sertoli cell-only syndrome, and the third diminished spermatogenesis. In all three patients, the deletions extend from close to the 3′ end into the gene, removing the entire coding sequence of  DFFRY . The mouse  Dffry  gene maps to the  Sxr b   deletion interval on the short arm of the mouse Y chromosome and its expression in mouse testis can first be detected between 7.5 and 10.5 days after birth when type A and B spermatogonia and pre-leptotene and leptotene spermatocytes are present.

human molecular genetics

Characterisation of the coding sequence and fine mapping of the human  DFFRY  gene and comparative expression analysis and mapping to the  Sxr b   interval of the mouse Y chromosome of the  Dffry  gene