{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DEFB107B is a member of the β‐defensin family, a group of small cationic peptides that play a central role in innate immunity. These peptides are primarily recognized for their direct antimicrobial activity as well as their ability to modulate local immune responses. In humans, the β‐defensin genes reside in a complex, copy‐number variable cluster on chromosome 8p23.1. Many studies have demonstrated that variation in copy number at this locus is associated with altered risk for inflammatory and infectious diseases—for example, higher overall copy numbers have been linked to psoriasis and modifications in mucosal defense."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Although the precise functions of DEFB107B are still being elucidated, its genomic context suggests that, like other defensins, it contributes to the antimicrobial barrier of epithelial surfaces and participates in immune regulation. Detailed mapping of the defensin cluster has shown that the region proximal to DEFB107B is involved in the structural variability that may modulate the overall antimicrobial repertoire."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n In addition, proteomic studies in renal cell carcinoma identified β‐defensin 107 (often referred to as D107A) as a novel differentially expressed protein, suggesting that aberrations in its expression may have implications not only for host defense but also for tumor biology, possibly through local inflammatory or cell‐signaling mechanisms."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, DEFB107B likely serves dual functions—acting as an antimicrobial effector peptide that contributes to mucosal defense and as a modulator of immune responses. Moreover, natural variations in its gene copy number and expression levels may influence an individual's susceptibility to infection, inflammatory conditions, and possibly even certain cancers."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}, {"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Edward J Hollox, Ulrike Huffmeier, Patrick L J M Zeeuwen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Psoriasis is associated with increased beta-defensin genomic copy number."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.2007.48"}], "href": "https://doi.org/10.1038/ng.2007.48"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18059266"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18059266"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ester Ballana, Juan Ramón González, Nina Bosch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2164-8-14"}], "href": "https://doi.org/10.1186/1471-2164-8-14"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17214878"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17214878"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Robert J Hardwick, Lee R Machado, Luciana W Zuccherato, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21491"}], "href": "https://doi.org/10.1002/humu.21491"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21387465"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21387465"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Stefan Taudien, Klaus Huse, Marco Groth, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Res Notes (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1756-0500-7-93"}], "href": "https://doi.org/10.1186/1756-0500-7-93"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24552181"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24552181"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Eric A Jones, Anchasa Kananurak, Charles L Bevins, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0098269"}], "href": "https://doi.org/10.1371/journal.pone.0098269"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24867293"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24867293"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zhuang-Fei Chen, Yao-Jun Xiao, Ze-Hai Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Quantitative and comparative proteomics analysis in clear cell renal cell carcinoma and adjacent noncancerous tissues by 2-D DIGE]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nan Fang Yi Ke Da Xue Xue Bao (2017)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29180334"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29180334"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Stefan Taudien, Petra Galgoczy, Klaus Huse, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2164-5-92"}], "href": "https://doi.org/10.1186/1471-2164-5-92"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15588320"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15588320"}]}]}]}