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Polymorphic human insulin-responsive glucose-transporter gene on chromosome 17p13
G I Bell1, J C Murray, Y Nakamura
1Howard Hughes Medical Institute, University of Chicago, IL 60637.
Diabetes
|August 1, 1989
Summary
Insulin stimulates glucose uptake by moving glucose transporter type 4 (GLUT4) to cell surfaces. The GLUT4 gene was mapped to chromosome 17, aiding diabetes research.
Area of Science:
- Molecular Biology
- Genetics
- Endocrinology
Background:
- Insulin regulates glucose uptake in heart, muscle, and adipose tissue.
- This regulation involves the translocation of glucose transporters to the plasma membrane.
Purpose of the Study:
- To isolate and characterize the human insulin-responsive glucose transporter cDNA.
- To map the gene encoding this transporter (GLUT4) to a specific chromosome location.
- To identify genetic markers for studying the role of GLUT4 in diabetes.
Main Methods:
- Isolation of human insulin-responsive glucose transporter cDNAs.
- Sequence comparison with other glucose transporters.
- Gene mapping using human-mouse somatic cell hybrids.
- In situ hybridization to human chromosomes.
- Restriction Fragment Length Polymorphism (RFLP) analysis.
Main Results:
- The major human insulin-responsive glucose transporter (GLUT4) is a 509-amino acid protein.
- GLUT4 shares significant sequence identity with other glucose transporters.
- The GLUT4 gene was mapped to band p13 on the short arm of human chromosome 17.
- A Kpn I RFLP for GLUT4 was identified.
Conclusions:
- The characterization and mapping of the GLUT4 gene provide essential tools.
- These tools will facilitate research into the role of GLUT4 in the pathogenesis of diabetes mellitus.
- Understanding GLUT4's genetic basis is crucial for metabolic disease research.