Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses
Abstract
Deletion of any of three regions of the human Y chromosome results in spermatogenic failure and infertility. We previously sequenced one of these regions, azoospermia factor a (AZFa) and found that it spanned approximately 800 kb. By sequence-tagged site (STS) content mapping, we roughly defined deletion breakpoints in two unrelated, azoospermic men with AZFa deletions. The positions of proximal and distal breakpoints were similar in the two men. Hypothesizing that the deletions might have been generated by homologous recombination, we searched electronically for DNA sequence similarities between the proximal and distal breakpoint regions. These comparisons revealed the most striking sequence similarities anywhere along or near the AZFa region. In the proximal breakpoint region, we identified a 10 kb provirus of the recently defined HERV15 class of endogenous retroviruses. In the distal breakpoint region, we found a second HERV15 provirus, 94% identical in DNA sequence to the first and in the same orientation. (A partial LINE insertion in this distal provirus proved to be the basis of the previously described DYS11/p12f polymorphism.) The AZFa deletions in the two men differed slightly, but all breakpoints fell within the HERV15 proviruses. Indeed, sequencing of deletion junctions from the two men revealed that homologous recombination had occurred within large domains of absolute sequence identity between the proximal and distal proviruses. When combined with published STS mapping data for other AZFa-deleted men, our findings suggest that recombination between these two HERV15 proviruses could account for most AZFa deletions.
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HERV15 elements provide the homology for the recombination event that removes the azoospermia factor a (AZFa) region of the Y chromosome, leading to male infertility.
“Indeed, HERV15 elements have been found to provide the homology for the recombination event that removes the azoospermia factor a (AZFa) region of the Y chromosome, leading to male infertility 21,22.”
From Are human endogenous retroviruses pathogenic? An approach to testing the hypothesis (2013) · cites this paper as [22]
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- Authors
- Sun, C., Skaletsky, H., Rozen, S., Gromoll, J., Nieschlag, E., Oates, R., & Page, D. C.
- Affiliations
- Howard Hughes Medical Institute (US)
- Boston University (US)
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-09-01
- Volume
- 9
- Issue
- 15
- Pages
- 2291-2296
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2097512118
- Cited by
- 247
- References
- 28
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 2 · 2023: 7 · 2022: 5 · 2021: 8 · 2020: 6 · 2019: 9 · 2018: 9 · 2017: 8 · 2016: 3 · 2015: 7 · 2014: 10 · 2013: 11 · 2012: 16
- FWCI
- 7.22
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Keywords
- Y chromosome, azoospermia, homologous recombination, endogenous retroviruses, provirus, male infertility, spermatogenic failure, deletion breakpoints
- MeSH terms
- Base Sequence, Haplotypes, Humans, Male, Molecular Sequence Data, Oligospermia, Polymorphism, Genetic, Proteins, Recombination, Genetic, Y Chromosome, Minor Histocompatibility Antigens, Sequence Tagged Sites, Sequence Alignment, Sequence Deletion, Chromosome Breakage, Endogenous Retroviruses, Long Interspersed Nucleotide Elements, DEAD-box RNA Helicases
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