ArticleHuman genetics2015
Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 23 citations in OpenAlex.
- The identification of a novel frameshift insertion mutation in theClinical case reports · 2022Article
- Distinct sequence features underlie microdeletions and gross deletions in the human genome.Human mutation · 2022Article
- Cancer cells are highly susceptible to accumulation of templated insertions linked to MMBIR.Nucleic acids research · 2021Article
- SAMHD1 restrains aberrant nucleotide insertions at repair junctions generated by DNA end joining.Nucleic acids research · 2021Article
- Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.Journal of cellular and molecular medicine · 2020Article
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- Compound Heterozygosity for Novel Truncating Variants in theFrontiers in genetics · 2019Article
- Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.Scientific reports · 2018Article
- Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.Human genomics · 2018Article
- Break induced replication in eukaryotes: mechanisms, functions, and consequences.Critical reviews in biochemistry and molecular biology · 2017Review
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- Elevated variant density around SV breakpoints in germline lineage lends support to error-prone replication hypothesis.Genome research · 2016Article
- Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.The Journal of pediatrics · 2016Article
- Mechanisms underlying structural variant formation in genomic disorders.Nature reviews. Genetics · 2016Review
- Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements.Molecular cell · 2015Article
- Human Structural Variation: Mechanisms of Chromosome Rearrangements.Trends in genetics : TIG · 2015Review
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Authors and funding
18 authors at 11 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Copy number variations (CNVs) have increasingly been reported to cause, or predispose to, human disease. However, a large fraction of these CNVs have not been accurately characterized at the single-base-pair level, thereby hampering a better understanding of the mutational mechanisms underlying CNV formation. Here, employing a composite pipeline method derived from various inference-based programs, we have characterized 26 deletion CNVs [including three novel pathogenic CNVs involving an autosomal gene (EXT2) causing hereditary osteochondromas and an X-linked gene (CLCN5) causing Dent disease, as well as 23 CNVs previously identified by inference from a cohort of Canadian autism spectrum disorder families] to the single-base-pair level of accuracy from whole-genome sequencing data. We found that breakpoint-flanking micro-mutations (within 22 bp of the breakpoint) are present in a significant fraction (5/26; 19%) of the deletion CNVs. This analysis also provided evidence that a recently described error-prone form of DNA repair (i.e., repair of DNA double-strand breaks by templated nucleotide sequence insertions derived from distant regions of the genome) not only causes human genetic disease but also impacts on human genome evolution. Our findings illustrate the importance of precise CNV breakpoint delineation for understanding the underlying mutational mechanisms and have implications for primer design in relation to the detection of deletion CNVs in clinical diagnosis.
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