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Article

Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations.

Scientific reports - 4 Jun 2020

Hughes Timothy, Hansson Lars, Akkouh Ibrahim, Hajdarevic Riad, Bringsli Jorunn S, Torsvik Anja, Inderhaug Elin, Steen Vidar M, Djurovic Srdjan

Abstract excerpt

Alpha defensins are anti-microbial peptides of the innate immune system. The defensin A1 and A3 genes are located in a repeat array of variable copy number (the DEFA1A3 locus) and encode the human neutrophil peptides 1, 2 and 3. The possibility that copy number variation (CNV) may be associated with infection susceptibility and autoimmune pathology motivated the study of DEFA1A3 CNV across populations. We...

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Identifiers

PMID: 32499510
DOI: 10.1038/s41598-020-65675-w
PMCID: PMC7272440

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