Mutation/polymorphism scanning of glucose-6-phosphatase gene promoter in noninsulin-dependent diabetes mellitus patients.
Glucose-6-phosphatase (G6Pase) catalyzes the rate-limiting step of gluconeogenesis, and hepatic G6Pase activity is increased in diabetes. We have cloned and analyzed the human G6Pase gene promoter region and identified putative regulatory sequences for insulin, cAMP, glucocorticoid, and hepatocyte nuclear factors. The promoter region of the G6Pase gene was analyzed in 154 noninsulin-dependent diabetes mellitus patients and 90 control subjects by PCR-single strand conformation polymorphism and direct sequencing methods. Polymorphisms were not found in any subjects. The results suggested that in noninsulin-dependent diabetic patients, the major cause of the hepatic glucose overproduction was not attributed to dysregulation of the G6Pase gene due to mutation/polymorphism of its promoter region.
Yoshiuchi
I
I
Second Department of Internal Medicine, Osaka University Medical School, Suita, Japan.
Shingu
R
R
Nakajima
H
H
Hamaguchi
T
T
Horikawa
Y
Y
Yamasaki
T
T
Oue
T
T
Ono
A
A
Miyagawa
J I
JI
Namba
M
M
Hanafusa
T
T
Matsuzawa
Y
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D001665:Binding Sites / Q000502:physiology; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012016:Reference Values; D014157:Transcription Factors / Q000378:metabolism
D014157:Transcription Factors; D005952:Glucose-6-Phosphatase