ArticleGenomics2013
Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms.
Article in Genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 25 citations in OpenAlex.
- Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report.World journal of clinical cases · 2023Article
- New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion.Human molecular genetics · 2021Article
- Genetic testing for men with infertility: techniques and indications.Translational andrology and urology · 2021Review
- Sequence analysis inGenome research · 2020Article
- Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission.BioMed research international · 2020Article
- Review
- Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages.American journal of human genetics · 2018Article
- Cost-effective high-throughput single-haplotype iterative mapping and sequencing for complex genomic structures.Nature protocols · 2018Article
- Article
- The Y chromosomes of the great apes.Human genetics · 2017Review
- Partial and complete microdeletions of Y chromosome in infertile males from South of Iran.Molecular biology research communications · 2016Article
- Recombination between the mouse Y chromosome short arm and an additional Y short arm-derived chromosomal segment attached distal to the X chromosome PAR.Chromosoma · 2016Article
- Multicopy gene family evolution on primate Y chromosomes.BMC genomics · 2016Article
- Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.American journal of medical genetics. Part A · 2016Article
- Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism.Journal of genetics · 2015Article
- Purifying Selection Maintains Dosage-Sensitive Genes during Degeneration of the Threespine Stickleback Y Chromosome.Molecular biology and evolution · 2015Article
- FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male.Reproductive biomedicine online · 2015Article
- Incomplete meiotic sex chromosome inactivation in the domestic dog.BMC genomics · 2015Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Amplicons--large, nearly identical repeats in direct or inverted orientation--are abundant in the male-specific region of the human Y chromosome (MSY) and provide targets for intrachromosomal non-allelic homologous recombination (NAHR). Thus far, NAHR events resulting in deletions, duplications, inversions, or isodicentric chromosomes have been reported only for amplicon pairs located exclusively on the short arm (Yp) or the long arm (Yq). Here we report our finding of four men with Y chromosomes that evidently formed by intrachromosomal NAHR between inverted repeat pairs comprising one amplicon on Yp and one amplicon on Yq. In two men with spermatogenic failure, sister-chromatid crossing-over resulted in pseudoisoYp chromosome formation and loss of distal Yq. In two men with normal spermatogenesis, intrachromatid crossing-over generated pericentric inversions. These findings highlight the recombinogenic nature of the MSY, as intrachromosomal NAHR occurs for nearly all Y-chromosome amplicon pairs, even those located on opposing chromosome arms.
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Registered trials
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.