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Title: An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses
Authors: Machado, L. R.
Ottolini, Barbara
First Published: 18-Mar-2015
Publisher: Frontiers
Citation: Frontiers in Immunology 6:115.
Abstract: Defensins represent an evolutionary ancient family of antimicrobial peptides that play diverse roles in human health and disease. Defensins are cationic cysteine-containing multifunctional peptides predominantly expressed by epithelial cells or neutrophils. Defensins play a key role in host innate immune responses to infection and, in addition to their classically described role as antimicrobial peptides, have also been implicated in immune modulation, fertility, development, and wound healing. Aberrant expression of defensins is important in a number of inflammatory diseases as well as modulating host immune responses to bacteria, unicellular pathogens, and viruses. In parallel with their role in immunity, in other species, defensins have evolved alternative functions, including the control of coat color in dogs. Defensin genes reside in complex genomic regions that are prone to structural variations and some defensin family members exhibit copy number variation (CNV). Structural variations have mediated, and continue to influence, the diversification and expression of defensin family members. This review highlights the work currently being done to better understand the genomic architecture of the β-defensin locus. It evaluates current evidence linking defensin CNV to autoimmune disease (i.e., Crohn’s disease and psoriasis) as well as the contribution CNV has in influencing immune responses to HIV infection.
DOI Link: 10.3389/fimmu.2015.00115
ISSN: 1664-3224
eISSN: 1664-3224
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: © 2015 Machado and Ottolini. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Description: The Supplementary Material for this article can be found online at abstract
Appears in Collections:Published Articles, Dept. of Cancer Studies and Molecular Medicine

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