Shafie, Alaa, Xue, Mingzhan, Thornalley, Paul J. and Rabbani, Naila (2014) Copy number variation of glyoxalase I. Biochemical Society Transactions, Volume 42 (Number 2). pp. 500-503. doi:10.1042/BST20140011

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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.

Item Type:	Journal Article
Divisions:	Faculty of Medicine > Warwick Medical School > Biomedical Sciences > Translational & Experimental Medicine > Metabolic and Vascular Health (- until July 2016) Faculty of Medicine > Warwick Medical School
Journal or Publication Title:	Biochemical Society Transactions
Publisher:	Portland Press Ltd
ISSN:	0300-5127
Official Date:	2014
Dates:	Date Event 2014 Published
Volume:	Volume 42
Number:	Number 2
Page Range:	pp. 500-503
DOI:	10.1042/BST20140011
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Restricted or Subscription Access

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