TY - JOUR
T1 - Gene encoding the catalytic subunit p110β of human phosphatidylinositol 3-kinase
T2 - Cloning, genomic structure, and screening for variants in patients with type 2 diabetes
AU - Kossila, Maija
AU - Sinkovic, Marina
AU - Kärkkäinen, Päivi
AU - Laukkanen, Mikko O.
AU - Miettinen, Raija
AU - Rissanen, Johanna
AU - Kekäläinen, Päivi
AU - Kuusisto, Johanna
AU - Ylä-Herttuala, Seppo
AU - Laakso, Markku
PY - 2000
Y1 - 2000
N2 - Phosphatidylinositol (PI) 3-kinase is a key signaling molecule in insulin-stimulated glucose transport. Therefore, we investigated the catalytic subunit p110β of human PI 3-kinase as a candidate gene for type 2 diabetes. Human p110β gene was cloned from the placental genomic library. All 22 exons, intronic regions flanking the exons and 1.5 kb of the proximal/5' region of the p110β gene, were screened for variants by single-strand conformation polymorphism analysis in 79 Finnish patients with type 2 diabetes. Allele frequencies of the variants were also determined in 77 nondiabetic control subjects. No variants were found in exons in diabetic patients. However, we identified two nucleotide polymorphisms in the proximal/5' region of the p110β gene and a variation in the number of 2-bp repeat sequence (TA)(n) in intron 4. The allele frequencies did not differ between diabetic and control subjects. Our results may indicate that the catalytic subunit p110β of PI 3-kinase plays such a fundamental role in the insulin-signaling pathway that structural variants are not likely to exist in that gene. The importance of the polymorphisms in the proximal/5' region of the p110β gene for insulin signaling remains to be determined.
AB - Phosphatidylinositol (PI) 3-kinase is a key signaling molecule in insulin-stimulated glucose transport. Therefore, we investigated the catalytic subunit p110β of human PI 3-kinase as a candidate gene for type 2 diabetes. Human p110β gene was cloned from the placental genomic library. All 22 exons, intronic regions flanking the exons and 1.5 kb of the proximal/5' region of the p110β gene, were screened for variants by single-strand conformation polymorphism analysis in 79 Finnish patients with type 2 diabetes. Allele frequencies of the variants were also determined in 77 nondiabetic control subjects. No variants were found in exons in diabetic patients. However, we identified two nucleotide polymorphisms in the proximal/5' region of the p110β gene and a variation in the number of 2-bp repeat sequence (TA)(n) in intron 4. The allele frequencies did not differ between diabetic and control subjects. Our results may indicate that the catalytic subunit p110β of PI 3-kinase plays such a fundamental role in the insulin-signaling pathway that structural variants are not likely to exist in that gene. The importance of the polymorphisms in the proximal/5' region of the p110β gene for insulin signaling remains to be determined.
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M3 - Article
C2 - 11016459
AN - SCOPUS:0033815162
VL - 49
SP - 1740
EP - 1743
JO - Diabetes
JF - Diabetes
SN - 0012-1797
IS - 10
ER -