ArticleAmerican journal of human genetics2002
Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 126 papers, 4 of them syntheses that pooled it.
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Who cites it
126 citing papers in PubMed, 4 syntheses or guidelines pooled it, 436 citations in OpenAlex.
- An updated overview of experimental and computational approaches to identify non-canonical DNA/RNA structures with emphasis on G-quadruplexes and R-loops.Briefings in bioinformatics · 2022Pooled it
- Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses.Scientific reports · 2016Pooled it
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.Andrology · 2014Guideline
- Reproductive outcomes of intracytoplasmic sperm injection using testicular sperm and ejaculated sperm in patients with AZFc microdeletions: a systematic review and meta-analysis.Asian journal of andrologyPooled it
- Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures.bioRxiv : the preprint server for biology · 2026Article
- The genetic aetiology of male infertility: clinical and forensic implications.Molecular biology reports · 2026Review
- The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region.bioRxiv : the preprint server for biology · 2025Article
- scRNA-Seq-Based Transcriptome Profiling and Relevant Bioinformatics Approaches to Uncover Novel Insights in Studying Human Spermatogenesis.Advances in experimental medicine and biology · 2025Review
- Replication of [AT/TA]Biochemistry · 2024Article
- Environmental and Genetic Traffic in the Journey from Sperm to Offspring.Biomolecules · 2023Review
- Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility.Journal, genetic engineering & biotechnology · 2023Article
- Replication of [AT/TA]bioRxiv : the preprint server for biology · 2023Article
- Transcript Isoform Diversity of Ampliconic Genes on the Y Chromosome of Great Apes.Genome biology and evolution · 2023Article
- Towards a Multi-Omics of Male Infertility.The world journal of men's health · 2023Review
- The predictive factors of successful sperm retrieval for men with Y chromosome AZFc microdeletion.Journal of assisted reproduction and genetics · 2022Article
- Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.Biology of reproduction · 2022Article
- Prevalence of Y chromosome microdeletions among infertile Mongolian men.Clinical and experimental reproductive medicine · 2022Article
- Article
- X-linked palindromic gene families 4930567H17Rik and Mageb5 are dispensable for male mouse fertility.Scientific reports · 2022Article
- Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility.Journal of human genetics · 2022Article
66 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is widely believed that at least three nonoverlapping regions of the human Y chromosome-AZFa, AZFb, and AZFc ("azoospermia factors" a, b, and c)-are essential for normal spermatogenesis. These intervals are defined by interstitial Y-chromosome deletions that impair or extinguish spermatogenesis. Deletion breakpoints, mechanisms, and lengths, as well as inventories of affected genes, have been elucidated for deletions of AZFa and of AZFc but not for deletions of AZFb or of AZFb plus AZFc. We studied three deletions of AZFb and eight deletions of AZFb plus AZFc, as assayed by the STSs defining these intervals. Guided by Y-chromosome sequence, we localized breakpoints precisely and were able to sequence nine of the deletion junctions. Homologous recombination can explain seven of these deletions but not the remaining two. This fact and our discovery of breakpoint hotspots suggest that factors in addition to homology underlie these deletions. The deletions previously thought to define AZFb were found to extend from palindrome P5 to the proximal arm of palindrome P1, 1.5 Mb within AZFc. Thus, they do not define a genomic region separate from AZFc. We also found that the deletions of AZFb plus AZFc, as assayed by standard STSs heretofore available, in fact extend from P5 to the distal arm of P1 and spare distal AZFc. Both classes of deletions are massive: P5/proximal-P1 deletions encompass up to 6.2 Mb and remove 32 genes and transcripts; P5/distal-P1 deletions encompass up to 7.7 Mb and remove 42 genes and transcripts. To our knowledge, these are the largest of all human interstitial deletions for which deletion junctions and complete intervening sequence are available. The restriction of the associated phenotype to spermatogenic failure indicates the remarkable functional specialization of the affected regions of the Y chromosome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.