Beta defensin 1 explained

Beta-defensin 1 is a protein that in humans is encoded by the DEFB1 gene.^{[1] [2]}

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member defensin, alpha 1, and has been implicated in the pathogenesis of cystic fibrosis.^[2] Single-nucleotide polymorphisms in the DEFB1 gene were associated with plasma kynurenine concentrations in major depressive disorder patients in a genome-wide association study.^[3]

Further reading

• Ganz T, Lehrer RI . Defensins . Pharmacology & Therapeutics . 66 . 2 . 191–205 . May 1995 . 7667395 . 10.1016/0163-7258(94)00076-F .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . September 1996 . 8889548 . 10.1101/gr.6.9.791 . free .
• Goldman MJ, Anderson GM, Stolzenberg ED, Kari UP, Zasloff M, Wilson JM . Human beta-defensin-1 is a salt-sensitive antibiotic in lung that is inactivated in cystic fibrosis . Cell . 88 . 4 . 553–60 . February 1997 . 9038346 . 10.1016/S0092-8674(00)81895-4 . 6614946 . free .
• McCray PB, Bentley L . Human airway epithelia express a beta-defensin . American Journal of Respiratory Cell and Molecular Biology . 16 . 3 . 343–9 . March 1997 . 9070620 . 10.1165/ajrcmb.16.3.9070620 .
• Liu L, Zhao C, Heng HH, Ganz T . The human beta-defensin-1 and alpha-defensins are encoded by adjacent genes: two peptide families with differing disulfide topology share a common ancestry . Genomics . 43 . 3 . 316–20 . August 1997 . 9268634 . 10.1006/geno.1997.4801 .
• Valore EV, Park CH, Quayle AJ, Wiles KR, McCray PB, Ganz T . Human beta-defensin-1: an antimicrobial peptide of urogenital tissues . The Journal of Clinical Investigation . 101 . 8 . 1633–42 . April 1998 . 9541493 . 508744 . 10.1172/JCI1861 .
• Schnapp D, Reid CJ, Harris A . Localization of expression of human beta defensin-1 in the pancreas and kidney . The Journal of Pathology . 186 . 1 . 99–103 . September 1998 . 9875146 . 10.1002/(SICI)1096-9896(199809)186:1<99::AID-PATH133>3.0.CO;2-# . 196604843 .
• Hiratsuka T, Nakazato M, Ashitani J, Matsukura S . [A study of human beta-defensin-1 and human beta-defensin-2 in airway mucosal defense] . Kansenshogaku Zasshi. The Journal of the Japanese Association for Infectious Diseases . 73 . 2 . 156–62 . February 1999 . 10213993 . 10.11150/kansenshogakuzasshi1970.73.156 . free .
• Gropp R, Frye M, Wagner TO, Bargon J . Epithelial defensins impair adenoviral infection: implication for adenovirus-mediated gene therapy . Human Gene Therapy . 10 . 6 . 957–64 . April 1999 . 10223729 . 10.1089/10430349950018355 .
• Mathews M, Jia HP, Guthmiller JM, Losh G, Graham S, Johnson GK, Tack BF, McCray PB . 6 . Production of beta-defensin antimicrobial peptides by the oral mucosa and salivary glands . Infection and Immunity . 67 . 6 . 2740–5 . June 1999 . 10338476 . 96577 . 10.1128/IAI.67.6.2740-2745.1999 .
• Bøe R, Silvola J, Yang J, Moens U, McCray PB, Stenfors LE, Seljfelid R . Human beta-defensin-1 mRNA is transcribed in tympanic membrane and adjacent auditory canal epithelium . Infection and Immunity . 67 . 9 . 4843–6 . September 1999 . 10456939 . 96817 . 10.1128/IAI.67.9.4843-4846.1999 .
• Yang D, Chertov O, Bykovskaia SN, Chen Q, Buffo MJ, Shogan J, Anderson M, Schröder JM, Wang JM, Howard OM, Oppenheim JJ . 6 . Beta-defensins: linking innate and adaptive immunity through dendritic and T cell CCR6 . Science . 286 . 5439 . 525–8 . October 1999 . 10521347 . 10.1126/science.286.5439.525 .
• Tunzi CR, Harper PA, Bar-Oz B, Valore EV, Semple JL, Watson-MacDonell J, Ganz T, Ito S . 6 . Beta-defensin expression in human mammary gland epithelia . Pediatric Research . 48 . 1 . 30–5 . July 2000 . 10879797 . 10.1203/00006450-200007000-00008 . free .
• Sahasrabudhe KS, Kimball JR, Morton TH, Weinberg A, Dale BA . Expression of the antimicrobial peptide, human beta-defensin 1, in duct cells of minor salivary glands and detection in saliva . Journal of Dental Research . 79 . 9 . 1669–74 . September 2000 . 11023262 . 10.1177/00220345000790090601 . 2364914 .
• Jia HP, Starner T, Ackermann M, Kirby P, Tack BF, McCray PB . Abundant human beta-defensin-1 expression in milk and mammary gland epithelium . The Journal of Pediatrics . 138 . 1 . 109–12 . January 2001 . 11148522 . 10.1067/mpd.2001.109375 .
• Ali RS, Falconer A, Ikram M, Bissett CE, Cerio R, Quinn AG . Expression of the peptide antibiotics human beta defensin-1 and human beta defensin-2 in normal human skin . The Journal of Investigative Dermatology . 117 . 1 . 106–11 . July 2001 . 11442756 . 10.1046/j.0022-202x.2001.01401.x . free .
• Carothers DG, Graham SM, Jia HP, Ackermann MR, Tack BF, McCray PB . Production of beta-defensin antimicrobial peptides by maxillary sinus mucosa . American Journal of Rhinology . 15 . 3 . 175–9 . 2001 . 11453504 . 10.2500/105065801779954238 . 31583849 .
• Hoover DM, Chertov O, Lubkowski J . The structure of human beta-defensin-1: new insights into structural properties of beta-defensins . The Journal of Biological Chemistry . 276 . 42 . 39021–6 . October 2001 . 11486002 . 10.1074/jbc.M103830200 . free .

Notes and References

1. Bensch KW, Raida M, Mägert HJ, Schulz-Knappe P, Forssmann WG . hBD-1: a novel beta-defensin from human plasma . FEBS Letters . 368 . 2 . 331–5 . July 1995 . 7628632 . 10.1016/0014-5793(95)00687-5 . 84766207 . free .
2. Web site: Entrez Gene: DEFB1 defensin, beta 1.
3. Liu D, Ray B, Neavin DR, Zhang J, Athreya AP, Biernacka JM, Bobo WV, Hall-Flavin DK, Skime MK, Zhu H, Jenkins GD, Batzler A, Kalari KR, Boakye-Agyeman F, Matson WR, Bhasin SS, Mushiroda T, Nakamura Y, Kubo M, Iyer RK, Wang L, Frye MA, Kaddurah-Daouk R, Weinshilboum RM . 6 . Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics . Translational Psychiatry . 8 . 1 . 10 . January 2018 . 29317604 . 5802574 . 10.1038/s41398-017-0056-8 .