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

Lee Machado, Barbara Ottolini

Research output: Contribution to journalArticle

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.
Original languageEnglish
JournalFrontiers in Immunology
Volume6
Issue number115
Early online date18 Mar 2015
DOIs
Publication statusE-pub ahead of print - 18 Mar 2015

Fingerprint

Defensins
Adaptive Immunity
Innate Immunity
Peptides
Psoriasis
Crohn Disease
Wound Healing
Autoimmune Diseases
HIV Infections
Cysteine
Fertility
Immunity
Neutrophils
Color
Epithelial Cells
Dogs
Viruses
Bacteria

Keywords

  • Crohn’s disease
  • HIV
  • copy number variation
  • defensins
  • psoriasis

Cite this

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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.",
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An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses. / Machado, Lee; Ottolini, Barbara.

In: Frontiers in Immunology, Vol. 6, No. 115, 18.03.2015.

Research output: Contribution to journalArticle

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