Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
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Meiotic recombination between highly similar duplicated sequences (nonallelic homologous recombination, NAHR) generates deletions, duplications, inversions and translocations, and it is responsible for genetic diseases known as 'genomic disorders', most of which are caused by altered copy number of dosage-sensitive genes. NAHR hot spots have been identified within some duplicated sequences. We have developed sperm-based assays to measure the de novo rate of reciprocal deletions and duplications at four NAHR hot spots. We used these assays to dissect the relative rates of NAHR between different pairs of duplicated sequences. We show that (i) these NAHR hot spots are specific to meiosis, (ii) deletions are generated at a higher rate than their reciprocal duplications in the male germline and (iii) some of these genomic disorders are likely to have been underascertained clinically, most notably that resulting from the duplication of 7q11, the reciprocal of the deletion causing Williams-Beuren syndrome.
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NAHR occurs during meiosis and, less often, in mitotically dividing cells.
“NAHR can occur both in meiosis (Turner et al., 2008) and, at lower frequency, in mitotically-dividing cells as well (Lam and Jeffreys, 2006, 2007).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Turner et al., 2008
Many of the genes implicated in dominant diseases have been related to loss of function or haploinsufficiency, previously suggested to be more frequent and penetrant when deletions rather than duplications are involved.
“Many of the genes implicated in dominant diseases have been related to loss of function or haploinsufficiency, previously suggested to be more frequent and penetrant when deletions rather than duplications are involved.46”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [46]
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- Authors
- Turner, D. J., Miretti, M., Rajan, D., Fiegler, H., Carter, N. P., Blayney, M. L., Beck, S., & Hurles, M. E.
- Affiliations
- Wellcome Sanger Institute (GB)
- Bourn Hall Clinic (GB)
- University College London (GB)
- Corresponding author
- Hurles, Matthew E
- Venue
- Nature Genetics
- Published
- 2007-12-02
- Volume
- 40
- Issue
- 1
- Pages
- 90-95
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2669897
- OpenAlex
- W2042482078
- Cited by
- 320
- References
- 33
- Citations by year
- 2026: 5 · 2025: 11 · 2024: 14 · 2023: 12 · 2022: 14 · 2021: 10 · 2020: 5 · 2019: 11 · 2018: 13 · 2017: 9 · 2016: 10 · 2015: 20 · 2014: 13 · 2013: 21 · 2012: 24
- FWCI
- 17.20
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust (077014, 077008)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- non-allelic homologous recombination, genomic disorders, meiotic recombination, de novo deletion, male germline, Williams syndrome, copy number variation, dosage-sensitive genes
- MeSH terms
- Chromosome Deletion, Chromosomes, Human, Pair 7, Humans, Male, Meiosis, Molecular Sequence Data, Recombination, Genetic, Spermatozoa, Williams Syndrome, Gene Duplication
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