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dc.contributor.authorHughes, Timothy
dc.contributor.authorHansson, Lars
dc.contributor.authorAkkouh, Ibrahim
dc.contributor.authorHajdarevic, Riad
dc.contributor.authorBringsli, Jorunn
dc.contributor.authorTorsvik, Anja
dc.contributor.authorInderhaug, Elin
dc.contributor.authorSteen, Vidar Martin
dc.contributor.authorDjurovic, Srdjan
dc.date.accessioned2021-05-10T11:56:45Z
dc.date.available2021-05-10T11:56:45Z
dc.date.created2020-11-26T17:20:48Z
dc.date.issued2020-06-04
dc.PublishedScientific Reports. 2020, 10 (1), .
dc.identifier.issn2045-2322
dc.identifier.urihttps://hdl.handle.net/11250/2754662
dc.description.abstractAlpha 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 enhanced two existing methods (one qPCR-based and one sequencing-based) to enable copy number estimation that discriminates between DEFA1 and DEFA3 genes. We used these methods to quantify A1/A3 copy number variation in 2504 samples from the 1000 Genomes high-coverage dataset as well as performing FiberFISH assays on selected samples to visualize the haplotypes. These methods produce accurate estimates and show that there are substantial differences between populations. The African population is a clear outlier with a high frequency of the ancestral pure DEFA1 haplotype, but also harbours exceptionally long haplotypes of 24 copies of both DEFA1 and DEFA3, whilst the East Asian population displays the highest mean level of DEFA3 copy number. Further, our findings demonstrate that qPCR can be an accurate method for CNV estimation and that defensins substantially extend the known range of copy number variation for a human protein-coding gene.en_US
dc.language.isoengen_US
dc.publisherNature Researchen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleRunaway multi-allelic copy number variation at the α-defensin locus in African and Asian populationsen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright The Author(s) 2020en_US
dc.source.articlenumber9101en_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1
dc.identifier.doi10.1038/s41598-020-65675-w
dc.identifier.cristin1853096
dc.source.journalScientific Reportsen_US
dc.source.4010
dc.source.141
dc.source.pagenumber1-8en_US
dc.identifier.citationScientific Reports. 2020, 10 (9101)en_US
dc.source.volume10en_US


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Navngivelse 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse 4.0 Internasjonal