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Title: Extensive Normal Copy Number Variation of a b-Defensin Antimicrobial-Gene Cluster.
Authors: Hollox, Edward J.
Armour, John A. L.
Barber, John C. K.
First Published: 2003
Publisher: Elsevier on behalf of the American Society of Human Genetics
Citation: American Journal of Human Genetics, 2003, 73, pp. 591-600.
Abstract: Using a combination of multiplex amplifiable probe hybridization and semiquantitative fluorescence in situ hybridization (SQ-FISH), we analyzed DNA copy number variation across chromosome band 8p23.1, a region that is frequently involved in chromosomal rearrangements. We show that a cluster of at least three antimicrobial bdefensin genes (DEFB4, DEFB103, and DEFB104) at 8p23.1 are polymorphic in copy number, with a repeat unit ≥ 240 kb long. Individuals have 2–12 copies of this repeat per diploid genome. By segregation, microsatellite dosage, and SQ-FISH chromosomal signal intensity ratio analyses, we deduce that individual chromosomes can have one to eight copies of this repeat unit. Chromosomes with seven or eight copies of this repeat unit are identifiable by cytogenetic analysis as a previously described 8p23.1 euchromatic variant. Analysis of RNA from different individuals by semiquantitative reverse-transcriptase polymerase chain reaction shows a significant correlation between genomic copy number of DEFB4 and levels of its messenger RNA (mRNA) transcript. The peptides encoded by these genes are potent antimicrobial agents, especially effective against clinically important pathogens, such as Pseudomonas aeruginosa and Staphylococcus aureus, and DEFB4 has been shown to act as a cytokine linking the innate and adaptive immune responses. Therefore, a copy number polymorphism involving these genes, which is reflected in mRNA expression levels, is likely to have important consequences for immune system function.
DOI Link: 10.1086/378157
ISSN: 0002-9297
eISSN: 1537-6605
Type: Article
Description: Metadata only entry
Appears in Collections:Published Articles, Dept. of Genetics

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