Absence of mutations in the human OB gene in obese/diabetic subjects

Absence of mutations in the human OB gene in obese/diabetic subjects

The product of the obese (ob) gene, leptin, is a secreted protein that is important in the regulation of body weight. Mice with mutations in the ob gene are obese and diabetic and manifest reduced physical as well as metabolic activity. In this study, we tested the possibility that mutations in the...

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Bibliographic Details
Published in:Diabetes (New York, N.Y.) Vol. 45; no. 5; pp. 679 - 682
Main Authors: MAFFEI, M, STOFFEL, M, AUERBARCH, S, FRIEDMAN, J. M, BARONE, M, MOON, B, DAMMERMAN, M, RAVUSSIN, E, BOGARDUS, C, LUDWIG, D. S, FLIER, J. S, TALLEY, M
Format: Journal Article
Language:English
Published: Alexandria, VA American Diabetes Association 01-05-1996
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Biological and medical sciences
Diabetes
Diabetes mellitus
Diabetes Mellitus - genetics
Genetic aspects
Genetics
Genomic Library
Human chromosome abnormalities
Humans
Leptin
Male
Medical sciences
Metabolic diseases
Mice
Molecular Sequence Data
Mutation
Obesity
Oligodeoxyribonucleotides
Physiological aspects
Polymorphism, Genetic
Proteins - genetics
Repetitive Sequences, Nucleic Acid
Endocrinopathy
Human
Obesity
Genetic inheritance
Nutrition disorder
Mutation
Non insulin dependent diabetes
Polymorphism
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Summary:The product of the obese (ob) gene, leptin, is a secreted protein that is important in the regulation of body weight. Mice with mutations in the ob gene are obese and diabetic and manifest reduced physical as well as metabolic activity. In this study, we tested the possibility that mutations in the OB gene may contribute to human obesity. We report the isolation and partial sequence of the human OB gene and the screening of 105 obese patients for mutations in the protein coding sequence using the technique of single-strand conformational polymorphism. No coding sequence polymorphism was found, suggesting that mutations in the coding sequence of the OB gene do not constitute a common cause of increased body weight in humans. We also identified a highly polymorphic simple dinucleotide repeat DNA polymorphism in this gene that will be useful for genetic studies.
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ISSN:0012-1797
1939-327X
DOI:10.2337/diab.45.5.679