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Article

Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.

Genome biology and evolution - 1 Jan 2013

Bánlaki Zsófia, Szabó Julianna Anna, Szilágyi Ágnes, Patócs Attila, Prohászka Zoltán, Füst George, Doleschall Márton

Abstract excerpt

The RCCX region is a complex, multiallelic, tandem copy number variation (CNV). Two complete genes, complement component 4 (C4) and steroid 21-hydroxylase (CYP21A2, formerly CYP21B), reside in its variable region. RCCX is prone to nonallelic homologous recombination (NAHR) such as unequal crossover, generating duplications and deletions of RCCX modules, and gene conversion. A series of allele-specific long-range...

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Identifiers

PMID: 23241443
DOI: 10.1093/gbe/evs121
PMCID: PMC3595039

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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