Human Molecular Genetics, Vol 7, 97-107, Copyright © 1998 by Oxford University Press
GM Brown, RA Furlong, CA Sargent, RP Erickson, G Longepied, M Mitchell, MH Jones, TB Hargreave, HJ Cooke and NA Affara
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 Sxrb 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.
ARTICLES
Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene
Human Molecular Genetics Research Group, University of Cambridge Department of Pathology, Tennis Court Road, Cambridge CB2 1QP, UK.
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