Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
DEFB105A
Introduction
Beta-defensin 105 is a protein that is encoded by the DEFB105A gene in humans.[1][2][3]
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 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105A, represents the more centromeric copy.[3]
References
References
- ↑ Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB Jr (Feb 2002). “Discovery of five conserved beta -defensin gene clusters using a computational search strategy”. Proc Natl Acad Sci U S A. 99 (4): 2129–33. doi:10.1073/pnas.042692699. PMC 122330. PMID 11854508.
- ↑ Semple CA, Rolfe M, Dorin JR (May 2003). “Duplication and selection in the evolution of primate beta-defensin genes”. Genome Biol. 4 (5): R31. doi:10.1186/gb-2003-4-5-r31. PMC 156587. PMID 12734011.
- ↑ 3.0 3.1 “Entrez Gene: DEFB105A defensin, beta 105A”.
Further reading
Further reading
- Patil AA, Cai Y, Sang Y, et al. (2006). “Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract”. Physiol. Genomics. 23 (1): 5–17. doi:10.1152/physiolgenomics.00104.2005. PMID 16033865.
- Boniotto M, Ventura M, Eskdale J, et al. (2005). “Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution”. Genet. Test. 8 (3): 325–7. doi:10.1089/gte.2004.8.325. PMID 15727258.
- Taudien S, Galgoczy P, Huse K, et al. (2006). “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 (2003). “Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster”. Am. J. Hum. Genet. 73 (3): 591–600. doi:10.1086/378157. PMC 1180683. PMID 12916016.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Yamaguchi Y, Nagase T, Makita R, et al. (2002). “Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice”. J. Immunol. 169 (5): 2516–23. doi:10.4049/jimmunol.169.5.2516. PMID 12193721.