A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males
- PMID: 9806824
- DOI: 10.1006/geno.1998.5526
A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males
Abstract
Deletion interval 6 (DI6) of the human Y chromosome, located at the distal end of the long arm euchromatic region, is required for normal spermatogenesis. About 10% of males with idiopathic azoospermia or oligospermia have microdeletions in this region. Six gene families, including RBMY (RNA binding motif, Y chromosome), DAZ (deleted in azoospermia), and four recently isolated genes, have been mapped to this interval. Genes from all of these families show testis-specific expression and are thus candidates for azoospermic factor (AZF). DI6 is also rich in Y-specific repetitive sequences, which may be responsible for its frequent deletion. To understand the sequence organization of this region, a 5-Mb restriction map was constructed based on YAC clones and was partially verified on genomic DNA. The locations of five gene family members, as well as numerous STSs, were determined. The map shows several inverted and direct repeats several hundred kilobases in size. The restriction map of DI6 will facilitate future mapping of deletion breakpoints in infertile males and elucidation of mechanisms behind frequent deletions.
Copyright 1998 Academic Press.
Similar articles
-
Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy.J Clin Endocrinol Metab. 1996 Apr;81(4):1347-52. doi: 10.1210/jcem.81.4.8636331. J Clin Endocrinol Metab. 1996. PMID: 8636331
-
Screening for deletions in interval D16-22 of the Y chromosome in azoospermic and oligozoospermic Japanese men.J Hum Genet. 2001;46(3):110-4. doi: 10.1007/s100380170097. J Hum Genet. 2001. PMID: 11310577
-
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.Nat Genet. 1995 Aug;10(4):383-93. doi: 10.1038/ng0895-383. Nat Genet. 1995. PMID: 7670487
-
The azoospermic factor on the Y chromosome.Acta Paediatr Jpn. 1996 Aug;38(4):399-404. doi: 10.1111/j.1442-200x.1996.tb03514.x. Acta Paediatr Jpn. 1996. PMID: 8840553 Review.
-
[Y chromosome and spermatogenesis].Contracept Fertil Sex. 1997 Jul-Aug;25(7-8):620-5. Contracept Fertil Sex. 1997. PMID: 9410377 Review. French.
Cited by
-
Characterization of novel genes in AZF regions.J Endocrinol Invest. 2000 Nov;23(10):659-63. doi: 10.1007/BF03343790. J Endocrinol Invest. 2000. PMID: 11097430
-
A fiber-FISH contig spanning the non-recombining region of the human Y chromosome.Chromosome Res. 2002;10(8):621-35. doi: 10.1023/a:1021556108571. Chromosome Res. 2002. PMID: 12575791
-
Y chromosome azoospermia factor region microdeletions and transmission characteristics in azoospermic and severe oligozoospermic patients.Int J Clin Exp Med. 2015 Sep 15;8(9):14634-46. eCollection 2015. Int J Clin Exp Med. 2015. PMID: 26628946 Free PMC article. Review.
-
Disease gene discovery in male infertility: past, present and future.Hum Genet. 2021 Jan;140(1):7-19. doi: 10.1007/s00439-020-02202-x. Epub 2020 Jul 7. Hum Genet. 2021. PMID: 32638125 Free PMC article. Review.
-
A human DAZ transgene confers partial rescue of the mouse Dazl null phenotype.Proc Natl Acad Sci U S A. 1999 Jul 6;96(14):8040-5. doi: 10.1073/pnas.96.14.8040. Proc Natl Acad Sci U S A. 1999. PMID: 10393944 Free PMC article.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Miscellaneous
