ArticleNature genetics2010
PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans.
Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 202 papers, 1 of them a synthesis that pooled it.
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Who cites it
202 citing papers in PubMed, 1 synthesis or guideline pooled it, 328 citations in OpenAlex.
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.Genome medicine · 2022Pooled it
- Why recombination hotspots?PLoS genetics · 2026Review
- A novel dual histone mark reader ZCWPW2 regulates meiotic recombination through lactylation and transcriptional regulation in humans and mice.Nucleic acids research · 2026Article
- Modelling DMC1 mediated homologous recombination repair in mouse embryonic stem cells.Frontiers in cell and developmental biology · 2026Article
- Convergent Evolution and the Epigenome.Epigenomes · 2025Review
- A high-resolution crossover landscape in Drosophila santomea reveals rapid and concerted evolution of multiple properties of crossing over control.PLoS genetics · 2025Article
- Predicting differentially methylated cytosines in TET and DNMT3 knockout mutants via a large language model.Briefings in bioinformatics · 2025Article
- PRDM9 drives the location and rapid evolution of recombination hotspots in salmonid fish.PLoS biology · 2025Article
- Predicting Differentially Methylated Cytosines in TET and DNMT3 Knockout Mutants via a Large Language Model.bioRxiv : the preprint server for biology · 2024Article
- Novel crossover and recombination hotspots massively spread across primate genomes.Biology direct · 2024Article
- Understanding the Genetic Basis of Variation in Meiotic Recombination: Past, Present, and Future.Molecular biology and evolution · 2024Review
- Multiple Genomic Landscapes of Recombination and Genomic Divergence in Wild Populations of House Mice-The Role of Chromosomal Fusions and Prdm9.Molecular biology and evolution · 2024Article
- Natural variation in the zinc-finger-encoding exon of Prdm9 affects hybrid sterility phenotypes in mice.Genetics · 2024Article
- Novel Insights into the Landscape of Crossover and Noncrossover Events in Rhesus Macaques (Macaca mulatta).Genome biology and evolution · 2024Article
- Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line.Science (New York, N.Y.) · 2023Article
- Down the Penrose stairs, or how selection for fewer recombination hotspots maintains their existence.eLife · 2023Article
- The genetic determinants of recurrent somatic mutations in 43,693 blood genomes.Science advances · 2023Article
- Rapid Evolution of the Fine-scale Recombination Landscape in Wild House Mouse (Mus musculus) Populations.Molecular biology and evolution · 2023Article
- High population frequencies ofFrontiers in immunology · 2023Article
- Analysis of archaic human haplotypes suggests that 5hmC acts as an epigenetic guide for NCO recombination.BMC biology · 2022Article
142 more citing papers are in PubMed but not listed here.
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7 authors at 1 institution in 1 country.
Funding
Abstract
PRDM9 has recently been identified as a likely trans regulator of meiotic recombination hot spots in humans and mice. PRDM9 contains a zinc finger array that, in humans, can recognize a short sequence motif associated with hot spots, with binding to this motif possibly triggering hot-spot activity via chromatin remodeling. We now report that human genetic variation at the PRDM9 locus has a strong effect on sperm hot-spot activity, even at hot spots lacking the sequence motif. Subtle changes within the zinc finger array can create hot-spot nonactivating or enhancing variants and can even trigger the appearance of a new hot spot, suggesting that PRDM9 is a major global regulator of hot spots in humans. Variation at the PRDM9 locus also influences aspects of genome instability-specifically, a megabase-scale rearrangement underlying two genomic disorders as well as minisatellite instability-implicating PRDM9 as a risk factor for some pathological genome rearrangements.
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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.