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논문 기본 정보

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학술저널
저자정보
Kim, Eun Ky (Department of Internal Medicine, Seoul National University College of Medicine) Lee, Ji Seon (Department of Internal Medicine, Seoul National University College of Medicine) Cheong, Hae Il (Department of Pediatrics, Seoul National University Children's Hospital) Chung, Sung Soo (Department of Internal Medicine, Seoul National University College of Medicine) Kwak, Soo Heon (Department of Internal Medicine, Seoul National University Hospital) Park, Kyong Soo (Department of Internal Medicine, Seoul National University College of Medicine)
저널정보
한국유전체학회 Genomics & informatics Genomics & informatics 제12권 제4호
발행연도
2014.1
수록면
240 - 246 (7page)

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Mutation in HNF1B, the hepatocyte nuclear factor-$1{\beta}$ (HNF-$1{\beta}$) gene, results in maturity-onset diabetes of the young (MODY) 5, which is characterized by gradual impairment of insulin secretion. However, the functional role of HNF-$1{\beta}$ in insulin secretion and glucose metabolism is not fully understood. We identified a family with early-onset diabetes that fulfilled the criteria of MODY. Sanger sequencing revealed that a heterozygous P159L (CCT to CTT in codon 159 in the DNA-binding domain) mutation in HNF1B was segregated according to the affected status. To investigate the functional consequences of this HNF1B mutation, we generated a P159L HNF1B construct. The wild-type and mutant HNF1B constructs were transfected into COS-7 cells in the presence of the promoter sequence of human glucose transporter type 2 (GLUT2). The luciferase reporter assay revealed that P159L HNF1B had decreased transcriptional activity compared to wild-type (p < 0.05). Electrophoretic mobility shift assay showed reduced DNA binding activity of P159L HNF1B. In the MIN6 pancreatic ${\beta}$-cell line, overexpression of the P159L mutant was significantly associated with decreased mRNA levels of GLUT2 compared to wild-type (p < 0.05). However, INS expression was not different between the wild-type and mutant HNF1B constructs. These findings suggests that the impaired insulin secretion in this family with the P159L HNF1B mutation may be related to altered GLUT2 expression in ${\beta}$-cells rather than decreased insulin gene expression. In conclusion, we have identified a Korean family with an HNF1B mutation and characterized its effect on the pathogenesis of diabetes.
#glucose transporter type 2 #hepatocyte nuclear factor- $1{beta}$ #point mutation #type 2 diabetes mellitus

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참고문헌 (36)

참고문헌 신청
Fajans SS / 2001 / Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young / N Engl J Med 345:971~980 google schola Gardner DS / 2012 / Clinical features and treatment of maturity onset diabetes of the young (MODY) / Diabetes Metab Syndr Obes 5:101~108 google schola Mendel DB / 1991 / Crabtree GR. HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitro / Genes Dev 5:1042~1056 google schola Coffinier C / 1999 / Expression of the vHNF1/HNF1Beta homeoprotein gene during mouse organogenesis / Mech Dev 89:211~213 google schola Servitja JM / 2004 / Transcriptional networks controlling pancreatic development and beta cell function / Diabetologia 47:597~613 google schola

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