ArticleJournal of medical genetics2000
Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it.
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.Andrology · 2014Guideline
- Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR.Basic and clinical andrology · 2025Article
- Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.Cell genomics · 2024Article
- Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.Human mutation · 2021Article
- Y-microdeletions: a review of the genetic basis for this common cause of male infertility.Translational andrology and urology · 2021Review
- Genetic disorders and male infertility.Reproductive medicine and biology · 2020Review
- Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic.Journal of clinical medicine · 2020Review
- Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities.Molecular cytogenetics · 2020Article
- The Genomic Landscape of Centromeres in Cancers.Scientific reports · 2019Article
- High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men.Scientific reports · 2019Article
- Case of Inherited Partial AZFa Deletion without Impact on Male Fertility.Case reports in genetics · 2019Article
- Spermatogenic failure and the Y chromosome.Human genetics · 2017Review
- Y chromosome palindromes and gene conversion.Human genetics · 2017Review
- Structure and Diversity of the Rhesus Macaque Immunoglobulin Loci through MultipleFrontiers in immunology · 2017Article
- Genetics of Male Infertility.Current urology reports · 2016Review
- Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.Human molecular genetics · 2016Article
- Anomalous Separation of Small Y-Chromosomal DNA Fragments on Microchip Electrophoresis.Scientia pharmaceutica · 2016Article
- Human Chromosome Y and Haplogroups; introducing YDHS Database.Clinical and translational medicine · 2015Article
- Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.BMC medical genetics · 2014Article
- The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.PLoS genetics · 2014Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
The Y chromosome provides a unique opportunity to study mutational processes within the human genome, decoupled from the confounding effects of interchromosomal recombination. It has been suggested that the increased density of certain dispersed repeats on the Y could account for the high frequency of causative microdeletions relative to single nucleotide mutations in infertile males. Previously we localised breakpoints of an AZFa microdeletion close to two highly homologous complete human endogenous retroviral sequences (HERV), separated by 700 kb. Here we show, by sequencing across the breakpoint, that the microdeletion occurs in register within a highly homologous segment between the HERVs. Furthermore, we show that recurrent double crossovers have occurred between the HERVs, resulting in the loss of a 1.5 kb insertion from one HERV, an event underlying the first ever Y chromosomal polymorphism described, the 12f2 deletion. This event produces a substantially longer segment of absolute homology and as such may result in increased predisposition to further intrachromosomal recombination. Intrachromosomal crosstalk between these two HERV sequences can thus result in either homogenizing sequence conversion or a microdeletion causing male infertility. This represents a major subclass of AZFa deletions.
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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.