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a Human
Molecular Genetics Group, University of Cambridge, Department of
Pathology, Tennis Court Road, Cambridge CB2 1QP, UK, b Ruprecht-Karls-Universitat
Heidelberg, Institut fur Humangenetik, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany, c National Institute for Medical Research,
The Ridge Way, Mill Hill, London NW17 1AA, UK, d INSERM
Genetique Medicale et Developpment, Faculte de Medecine de la Timone,
27 Boulevard Jean Moulin, 13385 Marseille Cedex 05, France, e Department of Urology and University of
Edinburgh Department of Surgery (Urology), Western General Hospital,
Crewe Road, Edinburgh EH4 2XU, UK, f MRC Human Genetics Unit, Department of Surgery
(Urology), Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Correspondence to: Dr Affara.
Revised version received 11 May 1999;
Accepted for publication 13 May
1999
The position of deletion breakpoints in a series of four
AZFa male infertility patients has been
refined using new markers derived from BAC clone DNA sequence covering
the AZFa male infertility interval. The
proximal half of the AZFa interval is
occupied by pseudogene sequences with homology to Xp22. The distal half
contains an anonymous expressed sequence tag (named AZFaT1) found
transcribed in brain, testis, and skeletal muscle and the
DFFRY and DBY
genes. All the patients have AZFaT1 and
DFFRY deleted in their entirety and three
patients additionally have DBY deleted. The
three patients with AZFaT1, DFFRY, and
DBY deleted show a severe Sertoli cell only
syndrome type I phenotype, whereas the patient that has retained DBY shows a milder oligozoospermic
phenotype. The expression of DBY in a cell
line from this latter patient is unaltered; this shows that it is the
loss of genes lying within the deletion that is responsible for the
observed oligozoospermia. RT-PCR analysis of mouse testis RNA from
normal and XXSxra mice (devoid
of germ cells) has shown that Dby is
expressed primarily in somatic cells and that the level of expression
is unaltered during germ cell differentiation. This contrasts with
Dffry where no transcripts are detectable in
XXSxra mouse testis and
expression occurs specifically in testis mRNA in a germ cell dependent fashion.
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