Northampton Electronic Collection of Theses and Research

An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses

Machado, L. and Ottolini, B. (2015) An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses. Frontiers in Immunology. 6(115) 1664-3224.

Item Type: Article
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.
Uncontrolled Keywords: copy number variation, defensins, HIV, psoriasis, Crohn’s disease
Subjects: R Medicine > RC Internal medicine > RC581 Immunologic diseases. Allergy
Q Science > QR Microbiology > QR180 Immunology
Creators: Machado, Lee and Ottolini, Barbara
Publisher: IUIS
Northamptonshire and East Midlands: Health
Faculties, Divisions and Institutes: University Faculties, Divisions and Research Centres - OLD > Research Centre > Institute of Health and Wellbeing > Ageing Research Centre
Research Centres > Centre for Health Sciences and Services
Research Centres > Centre for Physical Activity and Life Sciences
Date: 18 March 2015
Date Type: Publication
Journal or Publication Title: Frontiers in Immunology
Volume: 6
Number: 115
Language: English
ISSN: 1664-3224
Status: Published / Disseminated

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