Molecular Human Reproduction, Vol 3, 705-708, Copyright © 1997 by Oxford University Press
NN Chai, A Phillips, A Fernandez and PH Yen
The DAZLA (DAZ Like Autosomal) gene on human chromosome 3 shares a high
degree of homology with the DAZ (Deleted in AZoospermia) gene family on the
Y chromosome, a gene family frequently deleted in males with azoospermia or
severe oligospermia. The involvement of both DAZ and DAZLA in
spermatogenesis is suggested by their testis-specific expression and their
homology with a Drosophila male infertility gene, boule. Whereas male
infertility resulting from deletion of the DAZ genes on the Y chromosome
occurs sporadically, that due to a defective DAZLA gene is expected to be
inheritable. The fraction of males with idiopathic azoospermia or
oligospermia that harbour mutations in the DAZLA gene remains unknown. As a
prerequisite for mutation screening, the genomic structure of the DAZLA
gene was elucidated and found to consist of 11 exons spanning 19 kh. The
exon/intron boundaries are conserved between DAZ and DAZLA. The 5' end of
both genes are hypomethylated in spermatozoa but not in leukocytes or
placenta, consistent with the expression pattern of the genes. The genomic
structure of DAZLA paves the way for mutation detection in families with
autosomal recessive male infertility.
JOURNAL ARTICLE
A putative human male infertility gene DAZLA: genomic structure and methylation status
Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance 90502-2064, USA.
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