ArticleJournal of medical genetics2003
The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.Frontiers in endocrinology · 2025Review
- The relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyotyping abnormalities with very severe oligozoospermia in Iranian men.Genes & genomics · 2023Article
- DDX3X structural analysis: Implications in the pharmacology and innate immunity.Current research in immunology · 2022Review
- A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility.Croatian medical journal · 2021Article
- Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature.Cell & bioscience · 2021Review
- Histology and sperm retrieval among men with Y chromosome microdeletions.Translational andrology and urology · 2021Review
- Genetic disorders and male infertility.Reproductive medicine and biology · 2020Review
- Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia.International journal of reproductive biomedicine · 2017Article
- Testicular abnormalities in mice with Y chromosome deficiencies.Biology of reproduction · 2017Article
- Copy number variation and microdeletions of the Y chromosome linked genes and loci across different categories of Indian infertile males.Scientific reports · 2015Article
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.American journal of human genetics · 2015Article
- Y chromosome azoospermia factor region microdeletions and transmission characteristics in azoospermic and severe oligozoospermic patients.International journal of clinical and experimental medicine · 2015Review
- Fate of iPSCs derived from azoospermic and fertile men following xenotransplantation to murine seminiferous tubules.Cell reports · 2014Article
- Y choromosomal microdeletion screening in the workup of male infertility and its current status in India.International journal of fertility & sterility · 2014Review
- Multiplex PCR based screening for microdeletions in azoospermia factor region of Y chromosome in azoospermic and severe oligozoospermic south Indian men.Iranian journal of reproductive medicine · 2013Article
- A comprehensive review of genetics and genetic testing in azoospermia.Clinics (Sao Paulo, Brazil) · 2013Review
- Organizational and functional status of the Y-linked genes and loci in the infertile patients having normal spermiogram.PloS one · 2012Article
- Article
- A large expansion of the HSFY gene family in cattle shows dispersion across Yq and testis-specific expression.PloS one · 2011Article
- Structural variation of the human genome: mechanisms, assays, and role in male infertility.Systems biology in reproductive medicine · 2011Review
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Microdeletions of the Y chromosome long arm are the most common mutations in infertile males, where they involve one or more "azoospermia factors" (AZFa, b, and c). Understanding of the AZF structure and gene content and mapping of the deletion breakpoints in infertile men are still incomplete. We have assembled a complete 4.3 Mb map of AZFb and surrounding regions by means of 38 BAC clones. The proximal part of AZFb consists of large repeated sequences organised in palindromes, but most of it is single copy sequence. A number of known and novel genes and gene families map in this interval, and most of them are testis specific or have testis specific transcripts. STS mapping allowed us to identify four severely infertile subjects with a deletion in AZFb with similar breakpoints, therefore suggesting a common deletion mechanism. This deletion includes at least five single copy genes and two duplicated genes, but does not remove the historical AZFb candidate gene RBMY1. These data suggest that other genes in AZFb may have important roles in spermatogenesis. We had no evidence for homologous recombination between large repeats as a possible deletion mechanism, as shown for AZFa and AZFc. However, identical sequences in AZFb and AZFc exist, and this finding could explain deletions found in these regions.
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