Generation of diversity at the human beta-defensin copy number
Abu Bakar, Suhaili (2010) Generation of diversity at the human beta-defensin copy number. PhD thesis, University of Nottingham.
Submicroscopic structural genomic variation includes copy number variation (CNV) that can result changes in DNA dosage, and the impacts can be observed on common disease, metabolism, and heritable traits such as colour vision and rhesus blood group. Human beta-defensins form a cluster of at least seven genes on human chromosome 8p23.1, with a diploid copy number commonly ranging between 2 and 7 copies. They encode small secreted antimicrobial peptides with cytokine-like properties which are found expressed at high levels in psoriasis patients, and copy number at this locus has been found to be associated with inflammatory bowel disease, particularly colonic Crohn’s disease.
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