The human autosomal gene DAZLA: testis specificity and a candidate for male infertility |
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Authors: | Yen PH; Chai NN; Salido EC |
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Institution: | Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance 90502-2064, USA. |
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Abstract: | The DAZ (Deleted in AZoospermia) and DAZLA (DAZ-like autosomal) genes may
be determinants of male infertility. The DAZ gene on the long arm of the
human Y chromosome is a strong candidate for the 'azoospermia factor'
(AZF). Its role in spermatogenesis is supported by its exclusive expression
in testis, its deletion in a high percentage of males with azoospermia or
severe oligospermia, and its homology with a Drosophila male infertility
gene boule. No DAZ homologous sequences have been found on the mouse Y
chromosome. Instead, a Dazla gene was isolated from mouse chromosome 17 and
has been considered to be a murine homologue of DAZ. However, the homology
between human DAZ and mouse Dazla is not strong, and Dazla contains only
one of the seven DAZ repeats found in DAZ. We report the isolation of the
human DAZLA gene by screening a human testis cDNA library with a DAZ cDNA
clone. DAZLA encodes only one DAZ repeat and shares high homology with the
mouse Dazla, indicating that these two genes are homologues. Using a panel
of rodent-human somatic cell lines and fluorescence in situ hybridization,
the DAZLA gene was mapped to 3p24, a region not known to share homology
with mouse chromosome 17. The DAZLA gene may be involved in some familial
cases of autosomal recessive male infertility.
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