Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination
Open accessAbstract
Homing in on Hotspots: The clustering of recombination in the genome, around locations known as hotspots, is associated with specific DNA motifs. Now, using a variety of techniques, three studies implicate a chromatin-modifying protein, the histone-methyltransferase PRDM9, as a major factor involved in human hotspots (see the Perspective by Cheung et al. ). Parvanov et al. (p. 835 , published online 31 December) mapped the locus in mice, and analyzed allelic variation in mice and humans, whereas Myers et al. (p. 876 , published online 31 December) used a comparative analysis between human and chimpanzees to show that the recombination process leads to a self-destructive drive in which the very motifs that recruit hotspots are eliminated from our genome. Baudat et al. (p. 836 , published online 31 December) took this analysis a step further to identify human allelic variants within Prdm9 that differed in the frequency at which they used hotspots. Furthermore, differential binding of this protein to different human alleles suggests that this protein interacts with specific DNA sequences. Thus, PDRM9 functions in the determination of recombination loci within the genome and may be a significant factor in the genomic differences between closely related species.
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PRDM9 is the major known determinant of the genomic locations of meiotic recombination events in humans and mice through its DNA binding site zinc finger domain.
“PRDM9 is the major known determinant of the genomic locations of meiotic recombination events in humans and mice through its DNA binding site zinc finger domain (6, 18, 19).”
From Health and population effects of rare gene knockouts in adult humans with related parents (2016) · cites this paper as [19]
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- Authors
- Myers, S., Bowden, R., Tumian, A., Bontrop, R. E., Freeman, C., MacFie, T. S., McVean, G., & Donnelly, P.
- Affiliations
- Centre for Human Genetics (GB)
- University of Oxford (GB)
- Biomedical Primate Research Centre (NL)
- University of Cambridge (GB)
- Corresponding author
- Myers, Simon
- Bowden, Rory
- MacFie, Tammie S.
- McVean, Gil
- Donnelly, Peter
- Venue
- Science
- Published
- 2010-02-12
- Volume
- 327
- Issue
- 5967
- Pages
- 876-879
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3828505
- OpenAlex
- W1963756058
- Cited by
- 683
- References
- 26
- Citations by year
- 2026: 30 · 2025: 30 · 2024: 40 · 2023: 26 · 2022: 32 · 2021: 42 · 2020: 26 · 2019: 35 · 2018: 37 · 2017: 38 · 2016: 40 · 2015: 43 · 2014: 55 · 2013: 43 · 2012: 61
- FWCI
- 67.19
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust (086084, 086786, 090532)
- Topics
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Keywords
- PRDM9, meiotic recombination, recombination hotspots, DNA sequence motifs, histone methyltransferase, chromatin modification, allelic variation, human-chimpanzee comparison, primate evolution
- MeSH terms
- Animals, Base Sequence, Pan troglodytes, Crossing Over, Genetic, DNA, Histones, Humans, Meiosis, Methylation, Histone-Lysine N-Methyltransferase, Recombination, Genetic, Species Specificity, Evolution, Molecular, Polymorphism, Single Nucleotide
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