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DEFB104A
Introduction
Beta-defensin 104 is a protein that in humans is encoded by the DEFB104A gene.[1]
Function
Function
Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy.[1]
Further reading
Further reading
- Patil AA, Cai Y, Sang Y, Blecha F, Zhang G (September 2005). “Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract”. Physiological Genomics. 23 (1): 5–17. doi:10.1152/physiolgenomics.00104.2005. PMID 16033865.
- Vankeerberghen A, Scudiero O, De Boeck K, Macek M, Pignatti PF, Van Hul N, Nuytten H, Salvatore F, Castaldo G, Zemkova D, Vavrova V, Cassiman JJ, Cuppens H (May 2005). “Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations”. Genomics. 85 (5): 574–81. doi:10.1016/j.ygeno.2005.02.003. PMID 15820309.
- Boniotto M, Ventura M, Eskdale J, Crovella S, Gallagher G (2005). “Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution”. Genetic Testing. 8 (3): 325–7. doi:10.1089/gte.2004.8.325. PMID 15727258.
- Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N, Siddiqui R, Platzer M (December 2004). “Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence”. BMC Genomics. 5 (1): 92. doi:10.1186/1471-2164-5-92. PMCÂ 544879. PMIDÂ 15588320.
- Hollox EJ, Armour JA, Barber JC (September 2003). “Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster”. American Journal of Human Genetics. 73 (3): 591–600. doi:10.1086/378157. PMC 1180683. PMID 12916016.
- Semple CA, Rolfe M, Dorin JR (2003). “Duplication and selection in the evolution of primate beta-defensin genes”. Genome Biology. 4 (5): R31. doi:10.1186/gb-2003-4-5-r31. PMCÂ 156587. PMIDÂ 12734011.
- Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T, Kurihara H, Ouchi Y (September 2002). “Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice”. Journal of Immunology. 169 (5): 2516–23. doi:10.4049/jimmunol.169.5.2516. PMID 12193721.
- Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB (February 2002). “Discovery of five conserved beta -defensin gene clusters using a computational search strategy”. Proceedings of the National Academy of Sciences of the United States of America. 99 (4): 2129–33. doi:10.1073/pnas.042692699. PMC 122330. PMID 11854508.
- GarcÃa JR, Krause A, Schulz S, RodrÃguez-Jiménez FJ, Klüver E, Adermann K, Forssmann U, Frimpong-Boateng A, Bals R, Forssmann WG (August 2001). “Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity”. FASEB Journal. 15 (10): 1819–21. doi:10.1096/fj.00-0865fje. PMID 11481241.