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Updated: Aug 9, 2026

A Semiautomated ChIP-Seq Procedure for Large-scale Epigenetic Studies
Published on: August 13, 2020
Copy number polymorphisms are not a common feature of innate immune genes
1Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095-1690, USA. rlinzmeier@mednet.ucla.edu
Abstract:
Extensive copy number polymorphism was recently reported for innate immunity-related alpha-defensin genes DEFA1 and DEFA3 and beta-defensin genes DEFB4, DEFB103, and DEFB104. To establish whether such polymorphisms are a common feature of innate immune genes we used quantitative real-time PCR to determine the copy numbers of seven genes whose products have important innate immune functions. The genes encoding lysozyme, lactoferrin, cathelicidin antimicrobial peptide (hCAP18/LL-37), cathepsin G, bactericidal/permeability-increasing protein, azurocidin (CAP37/heparin-binding protein), and neutrophil elastase were each found to be single copy per haploid genome. These findings, along with the recent observation that defensin genes DEFA4, DEFA5, DEFA6, and DEFB1 are single copy, suggest that copy number polymorphisms are not a common feature of the innate immune genome but are restricted to a small subset of innate immunity-related genes.
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