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Article

Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution.

Genetic testing - 1 Jan 2004

Boniotto Michele, Ventura Mario, Eskdale Joyce, Crovella Sergio, Gallagher Grant

Abstract excerpt

Defensins constitute a primary mechanism in the innate immune system of humans and all mammals. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. In humans, four beta-defensins have been descri...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15727258
DOI: 10.1089/gte.2004.8.325

Genes

DEFB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15727258-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution.PMID 15727258Read ↗

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence.Semantic proximity Read ↗

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.Semantic proximity Read ↗

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.Semantic proximity Read ↗

Both copy number and sequence variations affect expression of human DEFB4.Semantic proximity Read ↗

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A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East AsiaSemantic proximity Read ↗

Human defensin gene copy number polymorphisms: comprehensive analysis of independent variation in alpha- and beta-defensin regions at 8p22-p23.Semantic proximity Read ↗

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