PMID- 15475166
OWN - NLM
STAT- MEDLINE
DCOM- 20041210
LR  - 20220311
IS  - 0378-1119 (Print)
IS  - 0378-1119 (Linking)
VI  - 340
IP  - 2
DP  - 2004 Oct 13
TI  - The characterisation and functional analysis of the human glyoxalase-1 gene using 
      methods of bioinformatics.
PG  - 251-60
AB  - Methylglyoxal (MG), which forms MG-derived AGE, is elevated in diabetic subjects 
      with vascular disease. Detoxification of MG occurs through the glyoxalase system 
      incorporating glyoxalase-1 (GLO1) and glyoxalase-2. Perturbations of the 
      glyoxalase-1 gene (GLO1) may result in vulnerability to vascular complications 
      through alterations in AGE interactions. We used bioinformatics to predict the 
      structure, function and genetic variation of GLO1. We identified a previously 
      unreported exon. Seventy single nucleotide polymorphisms (SNPs) were identified 
      bioinformatically. The amino acid substitution Ala 111 Glu was confirmed and 
      predicted to be tolerant. Though no alternative splice variants were identified, 
      novel multiple alternative transcription start sites and alternative 3' UTRs were 
      demonstrated. Ubiquitous expression of GLO1 was confirmed. Conserved regulatory 
      regions were predicted 5' to the transcription start site and in the distal 
      promoter, and several predicted conserved transcription regulatory elements were 
      suggested in the 5' UTR. This study of GLO1 demonstrates multiple sequence 
      variants at DNA and mRNA levels, areas of sequence conservation and SNPs that are 
      predicted to affect function. A differential ability of glyoxalase-1 to reduce 
      the formation and subsequent interaction of AGEs may have a role in the 
      structural and functional manifestations of diabetic vascular disease.
FAU - Gale, Christopher P
AU  - Gale CP
AD  - Academic Unit of Molecular Vascular Medicine, The General Infirmary at Leeds, 
      Research School of Medicine, University of Leeds, G Floor, Martin Wing, Great 
      George Street, Leeds LS1 3EX, United Kingdom. medcpg@leeds.ac.uk
FAU - Grant, Peter J
AU  - Grant PJ
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Gene
JT  - Gene
JID - 7706761
RN  - 0 (DNA, Complementary)
RN  - 0 (Transcription Factors)
RN  - 9007-49-2 (DNA)
RN  - EC 4.4.1.5 (Lactoylglutathione Lyase)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Binding Sites/genetics
MH  - Computational Biology/*methods
MH  - DNA/genetics/metabolism
MH  - DNA, Complementary/genetics
MH  - Databases, Nucleic Acid
MH  - Genomics/methods
MH  - Humans
MH  - Lactoylglutathione Lyase/*genetics/metabolism
MH  - Molecular Sequence Data
MH  - Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic/genetics
MH  - RNA Processing, Post-Transcriptional
MH  - Transcription Factors/metabolism
MH  - Transcription Initiation Site
MH  - Transcription, Genetic
EDAT- 2004/10/12 09:00
MHDA- 2004/12/16 09:00
CRDT- 2004/10/12 09:00
PHST- 2004/03/12 00:00 [received]
PHST- 2004/06/18 00:00 [revised]
PHST- 2004/07/05 00:00 [accepted]
PHST- 2004/10/12 09:00 [pubmed]
PHST- 2004/12/16 09:00 [medline]
PHST- 2004/10/12 09:00 [entrez]
AID - S0378-1119(04)00400-7 [pii]
AID - 10.1016/j.gene.2004.07.009 [doi]
PST - ppublish
SO  - Gene. 2004 Oct 13;340(2):251-60. doi: 10.1016/j.gene.2004.07.009.