Inverted low-copy repeats and genome instability--a genome-wide analysis.

doi:10.1002/humu.22217

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Article

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Human mutation - 1 Jan 2013

Dittwald Piotr, Gambin Tomasz, Gonzaga-Jauregui Claudia, Carvalho Claudia M B, Lupski James R, Stankiewicz Paweł, Gambin Anna

Abstract excerpt

Inverse paralogous low-copy repeats (IP-LCRs) can cause genome instability by nonallelic homologous recombination (NAHR)-mediated balanced inversions. When disrupting a dosage-sensitive gene(s), balanced inversions can lead to abnormal phenotypes. We delineated the genome-wide distribution of IP-LCRs >1 kB in size with >95% sequence identity and mapped the genes, potentially intersected by an inversion, that...

Topics

Chromosome Inversion
Chromosome Mapping
Gene Deletion
Gene Dosage
Gene Duplication
Gene Rearrangement
Genetic Predisposition to Disease
Genome, Human
Genomic Instability
Humans
Models, Genetic
Recombination, Genetic
Segmental Duplications, Genomic

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Identifiers

PMID: 22965494
DOI: 10.1002/humu.22217
PMCID: PMC3738003

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