Insights into non-crossover recombination from long-read sperm sequencing Article Swipe
Regev Schweiger
,
Sang-Jin Lee
,
Chenxi Zhou
,
Tsun-Po Yang
,
Katie Smith
,
Stacy Li
,
Rashesh Sanghvi
,
Matthew D. C. Neville
,
Emily Mitchell
,
Ayrun Nessa
,
Sam Wadge
,
Kerrin S. Small
,
Peter J. Campbell
,
Peter H. Sudmant
,
Raheleh Rahbari
,
Richard Durbin
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.07.05.602249
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.07.05.602249
Meiotic recombination is a fundamental process that generates genetic diversity by creating new combinations of existing alleles. Although human crossovers have been studied at the pedigree, population and single-cell level, the more frequent non-crossover events that lead to gene conversion are harder to study, particularly at the individual level. Here we show that single high-fidelity long sequencing reads from sperm can capture both crossovers and non-crossovers, allowing effectively arbitrary sample sizes for analysis from one male. Using fifteen sperm samples from thirteen donors we demonstrate variation between and within donors for the rates of different types of recombination. Intriguingly, we observe a tendency for non-crossover gene conversions to occur upstream of nearby PRDM9 binding sites, whereas crossover locations have a slight downstream bias. We further provide evidence for two distinct non-crossover processes. One gives rise to the vast majority of non-crossovers with mean conversion tract length under 50bp, which we suggest is an outcome of standard PRDM9-induced meiotic recombination. In contrast ~2% of non-crossovers have much longer mean tract length, and potentially originate from the same process as complex events with more than two haplotype switches, which is not associated with PRDM9 binding sites and is also seen in somatic cells.
Related Topics
Concepts
Recombination
Gene conversion
Meiosis
Crossover
Biology
Genetics
Sperm
Chromosomal crossover
Homologous recombination
Population
Allele
Evolutionary biology
Gene
Computer science
Demography
Artificial intelligence
Sociology
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2024.07.05.602249
- OA Status
- green
- Cited By
- 10
- References
- 51
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4400430751
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4400430751Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2024.07.05.602249Digital Object Identifier
- Title
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Insights into non-crossover recombination from long-read sperm sequencingWork title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-07-07Full publication date if available
- Authors
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Regev Schweiger, Sang-Jin Lee, Chenxi Zhou, Tsun-Po Yang, Katie Smith, Stacy Li, Rashesh Sanghvi, Matthew D. C. Neville, Emily Mitchell, Ayrun Nessa, Sam Wadge, Kerrin S. Small, Peter J. Campbell, Peter H. Sudmant, Raheleh Rahbari, Richard DurbinList of authors in order
- Landing page
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https://doi.org/10.1101/2024.07.05.602249Publisher landing page
- Open access
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YesWhether a free full text is available
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greenOpen access status per OpenAlex
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https://doi.org/10.1101/2024.07.05.602249Direct OA link when available
- Concepts
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Recombination, Gene conversion, Meiosis, Crossover, Biology, Genetics, Sperm, Chromosomal crossover, Homologous recombination, Population, Allele, Evolutionary biology, Gene, Computer science, Demography, Artificial intelligence, SociologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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10Total citation count in OpenAlex
- Citations by year (recent)
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2025: 7, 2024: 3Per-year citation counts (last 5 years)
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51Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.complex | 178 |
| abstract_inverted_index.fifteen | 77 |
| abstract_inverted_index.further | 124 |
| abstract_inverted_index.genetic | 8 |
| abstract_inverted_index.length, | 169 |
| abstract_inverted_index.meiotic | 157 |
| abstract_inverted_index.observe | 100 |
| abstract_inverted_index.outcome | 153 |
| abstract_inverted_index.process | 5, 176 |
| abstract_inverted_index.provide | 125 |
| abstract_inverted_index.samples | 79 |
| abstract_inverted_index.somatic | 199 |
| abstract_inverted_index.studied | 22 |
| abstract_inverted_index.suggest | 150 |
| abstract_inverted_index.whereas | 115 |
| abstract_inverted_index.Although | 17 |
| abstract_inverted_index.alleles. | 16 |
| abstract_inverted_index.allowing | 66 |
| abstract_inverted_index.analysis | 72 |
| abstract_inverted_index.contrast | 160 |
| abstract_inverted_index.creating | 11 |
| abstract_inverted_index.distinct | 129 |
| abstract_inverted_index.evidence | 126 |
| abstract_inverted_index.existing | 15 |
| abstract_inverted_index.frequent | 32 |
| abstract_inverted_index.majority | 138 |
| abstract_inverted_index.standard | 155 |
| abstract_inverted_index.tendency | 102 |
| abstract_inverted_index.thirteen | 81 |
| abstract_inverted_index.upstream | 109 |
| abstract_inverted_index.arbitrary | 68 |
| abstract_inverted_index.crossover | 116 |
| abstract_inverted_index.different | 94 |
| abstract_inverted_index.diversity | 9 |
| abstract_inverted_index.generates | 7 |
| abstract_inverted_index.haplotype | 184 |
| abstract_inverted_index.locations | 117 |
| abstract_inverted_index.originate | 172 |
| abstract_inverted_index.pedigree, | 25 |
| abstract_inverted_index.switches, | 185 |
| abstract_inverted_index.variation | 85 |
| abstract_inverted_index.associated | 189 |
| abstract_inverted_index.conversion | 39, 143 |
| abstract_inverted_index.crossovers | 19, 63 |
| abstract_inverted_index.downstream | 121 |
| abstract_inverted_index.individual | 47 |
| abstract_inverted_index.population | 26 |
| abstract_inverted_index.processes. | 131 |
| abstract_inverted_index.sequencing | 56 |
| abstract_inverted_index.conversions | 106 |
| abstract_inverted_index.demonstrate | 84 |
| abstract_inverted_index.effectively | 67 |
| abstract_inverted_index.fundamental | 4 |
| abstract_inverted_index.potentially | 171 |
| abstract_inverted_index.single-cell | 28 |
| abstract_inverted_index.combinations | 13 |
| abstract_inverted_index.particularly | 44 |
| abstract_inverted_index.Intriguingly, | 98 |
| abstract_inverted_index.PRDM9-induced | 156 |
| abstract_inverted_index.high-fidelity | 54 |
| abstract_inverted_index.non-crossover | 33, 104, 130 |
| abstract_inverted_index.recombination | 1 |
| abstract_inverted_index.non-crossovers | 140, 163 |
| abstract_inverted_index.recombination. | 97, 158 |
| abstract_inverted_index.non-crossovers, | 65 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 96 |
| corresponding_author_ids | https://openalex.org/A5082040351 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 16 |
| corresponding_institution_ids | https://openalex.org/I241749, https://openalex.org/I2802476451 |
| citation_normalized_percentile.value | 0.92769755 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |