title: Copy number variation of glyoxalase I.
abstract: The glyoxalase I gene GLO1 is a hotspot for copy number variation in the human and mouse genomes. The additional copies are often functional, giving rise to 2-4-fold increased glyoxalase I expression and activity. The prevalence of GLO1 copy number increase in the human population appears to be approximately 2% and may be linked to a risk of obesity, diabetes and aging. Increased GLO1 copy number has been found in human tumour cell lines and primary human tumours. The minimum common copy number increase region was approximately 1 Mb and it contained GLO1 and seven other genes. The increased copy number was generally functional, being associated with increased glyoxalase I protein and multidrug resistance in cancer chemotherapy. Glo1 duplication in the mouse genome is found within approximately 0.5 Mb of duplicated DNA. It was claimed to be linked to anxiety phenotypes, but other related discordant findings have doubted the association with glyoxalase I and further investigation is required.
authors.affiliation: *Clinical Sciences Research Laboratories, Warwick Medical School, University of Warwick, University Hospital, Coventry CV2 2DX, U.K.
authors.forename: Alaa
authors.initials: A
authors.lastname: Shafie
authors.affiliation: *Clinical Sciences Research Laboratories, Warwick Medical School, University of Warwick, University Hospital, Coventry CV2 2DX, U.K.
authors.forename: Mingzhan
authors.initials: M
authors.lastname: Xue
authors.affiliation: *Clinical Sciences Research Laboratories, Warwick Medical School, University of Warwick, University Hospital, Coventry CV2 2DX, U.K.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Thornalley
authors.affiliation: *Clinical Sciences Research Laboratories, Warwick Medical School, University of Warwick, University Hospital, Coventry CV2 2DX, U.K.
authors.forename: Naila
authors.initials: N
authors.lastname: Rabbani
mesh_terms: D000818:Animals; D001007:Anxiety / Q000201:enzymology / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D006801:Humans; D007791:Lactoylglutathione Lyase / Q000235:genetics*; D051379:Mice; D009369:Neoplasms / Q000201:enzymology / Q000235:genetics
chemical_list: D007791:Lactoylglutathione Lyase