Cited by 247Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic VariationsSperm and Testicular Function

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Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

Sun, C., Skaletsky, H., Rozen, S., Gromoll, J., Nieschlag, E., Oates, R., Page, D. C.·2000·Human Molecular Genetics

DOI 10.1093/oxfordjournals.hmg.a018920

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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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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)
ORCID: Skaletsky, H.
Rozen, S.
Nieschlag, E.
Oates, R.
Page, D. C.
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
DOI: 10.1093/oxfordjournals.hmg.a018920
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 › Biochemistry, Genetics and Molecular Biology › Genetics › 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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Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

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