DEFB104A
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Beta-defensin 104 is a protein that in humans is encoded by the DEFB104A gene.{{cite web | title = Entrez Gene: DEFB104A defensin, beta 104A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=140596| accessdate = }}
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.
References
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Further reading
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- {{cite journal | vauthors = Patil AA, Cai Y, Sang Y, Blecha F, Zhang G | title = Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract | journal = Physiological Genomics | volume = 23 | issue = 1 | pages = 5–17 | date = September 2005 | pmid = 16033865 | doi = 10.1152/physiolgenomics.00104.2005 | s2cid = 22355626 }}
- {{cite journal | vauthors = 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 | title = Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations | journal = Genomics | volume = 85 | issue = 5 | pages = 574–81 | date = May 2005 | pmid = 15820309 | doi = 10.1016/j.ygeno.2005.02.003 }}
- {{cite journal | vauthors = Boniotto M, Ventura M, Eskdale J, Crovella S, Gallagher G | title = Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution | journal = Genetic Testing | volume = 8 | issue = 3 | pages = 325–7 | year = 2005 | pmid = 15727258 | doi = 10.1089/gte.2004.8.325 }}
- {{cite journal | vauthors = 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 | title = Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence | journal = BMC Genomics | volume = 5 | issue = 1 | pages = 92 | date = December 2004 | pmid = 15588320 | pmc = 544879 | doi = 10.1186/1471-2164-5-92 | doi-access = free }}
- {{cite journal | vauthors = Hollox EJ, Armour JA, Barber JC | title = Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster | journal = American Journal of Human Genetics | volume = 73 | issue = 3 | pages = 591–600 | date = September 2003 | pmid = 12916016 | pmc = 1180683 | doi = 10.1086/378157 }}
- {{cite journal | vauthors = Semple CA, Rolfe M, Dorin JR | title = Duplication and selection in the evolution of primate beta-defensin genes | journal = Genome Biology | volume = 4 | issue = 5 | pages = R31 | year = 2003 | pmid = 12734011 | pmc = 156587 | doi = 10.1186/gb-2003-4-5-r31 | doi-access = free }}
- {{cite journal | vauthors = Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T, Kurihara H, Ouchi Y | title = Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice | journal = Journal of Immunology | volume = 169 | issue = 5 | pages = 2516–23 | date = September 2002 | pmid = 12193721 | doi = 10.4049/jimmunol.169.5.2516 | doi-access = free }}
- {{cite journal | vauthors = Schutte BC, Mitros JP, Bartlett JA, Walters JD, Jia HP, Welsh MJ, Casavant TL, McCray PB | title = Discovery of five conserved beta -defensin gene clusters using a computational search strategy | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 4 | pages = 2129–33 | date = February 2002 | pmid = 11854508 | pmc = 122330 | doi = 10.1073/pnas.042692699 | bibcode = 2002PNAS...99.2129S | doi-access = free }}
- {{cite journal | vauthors = García JR, Krause A, Schulz S, Rodríguez-Jiménez FJ, Klüver E, Adermann K, Forssmann U, Frimpong-Boateng A, Bals R, Forssmann WG | title = Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity | journal = FASEB Journal | volume = 15 | issue = 10 | pages = 1819–21 | date = August 2001 | pmid = 11481241 | doi = 10.1096/fj.00-0865fje | doi-access = free | s2cid = 18399306 }}
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