Recombination initiation maps of individual human genomes
Open accessAbstract
DNA double-strand breaks (DSBs) are introduced in meiosis to initiate recombination and generate crossovers, the reciprocal exchanges of genetic material between parental chromosomes. Here, we present high-resolution maps of meiotic DSBs in individual human genomes. Comparing DSB maps between individuals shows that along with DNA binding by PRDM9, additional factors may dictate the efficiency of DSB formation. We find evidence for both GC-biased gene conversion and mutagenesis around meiotic DSB hotspots, while frequent colocalization of DSB hotspots with chromosome rearrangement breakpoints implicates the aberrant repair of meiotic DSBs in genomic disorders. Furthermore, our data indicate that DSB frequency is a major determinant of crossover rate. These maps provide new insights into the regulation of meiotic recombination and the impact of meiotic recombination on genome function.
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The healthy and fertile PRDM9-deficient adult human suggests differences from both mice and dogs, and supports the possibility of alternative mechanisms of localizing human meiotic crossovers.
“Thus the healthy and fertile PRDM9-deficient adult human suggests differences from both mice and dogs, and supports the possibility of alternative mechanisms of localizing human meiotic crossovers(25, 26).”
From Health and population effects of rare gene knockouts in adult humans with related parents (2016) · cites this paper as [25]
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Cites
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“Meiotic recombination has been implicated as a potential source of gross structural variants (SVs) (55) therefore we examined the association between meiotic DSBs and SVs.”
BackgroundGenetic recombination is directed away from functional genomic elements in mice
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Characterizing the Major Structural Variant Alleles of the Human Genome
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Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots
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- Authors
- Pratto, F., Brick, K., Khil, P., Smagulova, F., Petukhova, G. V., & Camerini-Otero, R. D.
- Affiliations
- National Institutes of Health (US)
- Uniformed Services University of the Health Sciences (US)
- National Institute of Diabetes, Digestive and Kidney Diseases, NIH, Bethesda, MD, USA.
- Corresponding author
- Pratto, Florencia
- Brick, Kevin
- Khil, Pavel
- Petukhova, Galina V.
- Venue
- Science
- Published
- 2014-11-14
- Volume
- 346
- Issue
- 6211
- Pages
- 1256442-1256442
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC5588152
- OpenAlex
- W1991867417
- Cited by
- 295
- References
- 9
- Citations by year
- 2026: 18 · 2025: 17 · 2024: 18 · 2023: 24 · 2022: 27 · 2021: 21 · 2020: 20 · 2019: 27 · 2018: 31 · 2017: 30 · 2016: 33 · 2015: 28 · 2014: 1
- FWCI
- 12.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- Funders
- National Institutes of Health
- National Institute of General Medical Sciences (R01GM084104)
- National Institute of Diabetes and Digestive and Kidney Diseases (ZIADK052034)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Chromosomal and Genetic Variations
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- meiotic recombination, DNA double-strand breaks, crossover formation, PRDM9, GC-biased gene conversion, genomic disorders, crossover rate
- MeSH terms
- Alleles, Chromosome Mapping, Humans, Male, Meiosis, Protein Binding, Histone-Lysine N-Methyltransferase, Spermatocytes, Genome, Human, Telomere, Genomic Instability, DNA Breaks, Double-Stranded, Homologous Recombination
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