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Article

A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination.

American journal of human genetics - 1 Nov 2006

Lindsay Sarah J, Khajavi Mehrdad, Lupski James R, Hurles Matthew E

Abstract excerpt

Insights into the origins of structural variation and the mutational mechanisms underlying genomic disorders would be greatly improved by a genomewide map of hotspots of nonallelic homologous recombination (NAHR). Moreover, our understanding of sequence variation within the duplicated sequences that are substrates for NAHR lags far behind that of sequence variation within the single-copy portion of the genome....

Topics

Alleles
Animals
Charcot-Marie-Tooth Disease
Chromosomes, Human
Databases, Genetic
Evolution, Molecular
Gene Conversion
Gene Duplication
Gene Rearrangement
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetics, Population

Genome, Human

Humans

Male

Molecular Sequence Data

Pan troglodytes

Phylogeny

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 17033965
DOI: 10.1086/508709
PMCID: PMC1698570

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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