Analysis of the insulin receptor gene tyrosine kinase domain in obese patients with hyperandrogenism, insulin resistance and acanthosis nigricans (type C insulin resistance)

International Journal of Obesity

Volumn 22, Issue 4, 1998, Pages 349-353

  Globerman, H ^a,b   Karnieli, E ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Acanthosis nigricans; Hyperandrogenism; Insulin receptor gene; Insulin resistance; Obesity; Single strand conformational polymorphism

Indexed keywords

INSULIN RECEPTOR; PROTEIN TYROSINE KINASE;

ACANTHOSIS NIGRICANS; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HYPERANDROGENISM; INSULIN RESISTANCE; MALE; OBESITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031884635     PISSN: 03070565     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ijo.0800593     Document Type: Article

References (28)

1. Taylor SI, Cama A, Accili D, Barbetti F, Quon MJ, De La Luz Sierra M, Suzuki Y, Koller E, Levy-Toledano R, Wertheimer E, Moncada VY, Kadowaki H, Kadowaki T. Mutations in the insulin receptor gene. Endo Rev 1992; 13: 566-595.
2. Flier JS, Eastman RC, Minaker KL, Matteson D, Rowe JW. Acanthosis nigricans in obese women with hyperandrogenism characterization of an insulin-resistant state distinct from the type A and B syndromes. Diabetes 1985; 34: 101-107.
3. Cohen P, Harel C, Bergman R, Daoud D, Pam Z, Barzilai N, Armoni M, Karnieli E. Insulin resistance and acanthosis nigricans: evidence for a postbinding defect in vivo. Metabolism 1990; 39: 1006-1011.
4. Peters EJ, Stuart CA, Prince MJ. Acanthosis nigricans and obesity: acquired and intrinsic defects in insulin action. Metabolism 1986; 35: 807-813.
5. Kim H, Kadowaki H, Sakura H, Odawara M, Momomura K, Takahashi Y, Miyazaki Y, Ohtani T, Akanuma Y, Yazaki Y, Kasuga M, Taylor SI, Kadowaki T. Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms. Diabetologia 1992; 35: 261-266.
6. Cama A, Sierra ML, Ottini L, Kadowaki T, Gorden P, Imperato-McGuinley J, Taylor SI. A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman. J Clin Endocrinol Metab 1991; 73: 894-901.
7. Sorbara LR, Tang Z, Cama A, Xia J, Schenker E, Kohanski RA, Poretsky L, Koller E, Taylor SI, Dunaif A. Absence of insulin receptor gene mutations in three insulin-resistant women with the polycystic ovary syndrome. Metabolism 1994; 43: 1568-1574.
8. Moller DE, Cohen O, Yamaguchi Y, Assiz R, Grigorescu F, Eberle A, Morrow LA, Moses AC, Flier JS. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Diabetes 1994; 43: 247-255.
9. Krook A, Kumar S, Laing I, Boulton AJM, Wass JAH, O'Rahilly S. Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. Diabetes 1994; 43: 357-368.
10. Rizza RA, Mandarino LJ, Gerich JE. Dose-response characteristics for effects of insulin on production and utilization of glucose in man. Am J Physiol 1981; 240: E630-E639.
11. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning. (2nd edn) Cold Spring Harbor Laboratory Press: Cold Spring Harbor NY, 1989, 9.16-9.19.
12. O'Rahilly S, Choi WH, Patel P, Turner RC, Flier JS, Moller DE. Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms. Diabetes 1991; 40: 777-782.
13. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-879.
14. Seino S, Seino M, Bell GI. Human insulin-receptor gene partial sequence and amplification of exons by polymerase chain reaction. Diabetes 1990; 39: 123-128.
15. Accili D, Barbetti F, Kadowaki T, Taylor SI. Detection of mutations in hormone receptor genes. In: DePablo F, Scanes CG, Weintraub BD (eds). Handbook of endocrine research techniques. Academic Press: California, 1993, 492-495.
16. Ullrich A, Bell JR, Chen EY, Herrera R, Petruzzelli LM, Dull TJ, Gray A, Coussens L, Liao YC, Tsubokawa M, Mason A, Seeburg PH, Grunfeld C, Rosen OM, Ramachandran J. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature 1985; 313: 756-761.
17. Ebina Y, Ellis L, Jarnagin K, Edery M, Graf L, Clauser E, Jing-hsiung O, Masiarz F, Kan YW, Goldfine ID, Roth RA, Rutter WJ. The human insulin receptor cDNA: the structural basis for hormone-activated, transmembrane signalling. Cell 1985; 40: 747-758.
18. Goldstein BJ, Dudley AL. The rat insulin receptor: primary structure and conservation of tissue-specific alternative messenger RNA splicing. Mol Endo 1990; 4: 235-244.
19. Flores-Riveros JR, Sibley E, Kastelic T, Lane MD. Substrate phosphorylation catalyzed by the insulin receptor tyrosine kinase. J Biol Chem 1989; 264: 21557-21572.
20. Ullrich A, Gray A, Tam AW, Yang-Feng T, Tsubokawa M, Collins C, Henzel W. LeBon T, Kathuria S, Chen E, Jacobs S, Francke U, Ramachandran J, Fujita-Yamaguchi Y. Insulin-like growth factor I receptor primary structure: Comparison with insulin receptor suggests structural determinants that define functional specificity. EMBO J 1986; 5: 2503-2512.
21. Ligtenberg MJL, Gennissen AMC, Vos HL, Hilkens J. A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA. Nucleic Acids Res 1991; 19: 297-301.
22. Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S. A novel exon mutation in the human β-hexosaminidase β subunit gene affects 3'splice site selection. J Biol Chem 1992; 267: 2406-2413.
23. Del Gatto F, Breathnach R. A Crouzon syndrome synonymous mutation activates a 5′ splice site within the III C exon of the FGFR2 gene. Genomics 1995; 27: 558-559.
24. Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16: 325-332.
25. Hayashi K. PCR-SSCP. A simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl 1992; 1: 34-38.
26. Michaud J, Brody LC, Steel G, Fontaine G, Martin LS, Valle D, Mitchell G. Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-amino-transferase gene. Genomics 1992; 13: 389-394.
27. Goddard A, Covello R, Luoh S-M, Clackson T, Rundle A, Gesundheit N, Carlsson L, Attie K and the Genetech GHIS Study Group. Growth hormone (GH) receptor mutations in selected children with idiopathic short stature (ISS): A molecular basis for partial GH-insensitivity (Abstract). In: Program and abstracts 77th annual meeting of the Endocrine Society. The Endocrine Society Press: Bethesda MD, 1995, 470.
28. Goddard AD, Covello R, Luoh S-M, Clackson T, Attie KM, Gesundheit N, Rundle AC, Wells JA, Carlsson L for the Growth Hormone Insensitivity Study Group. Mutations of the growth hormone receptor in children with idiopathic short stature. N Engl J Med 1995; 333: 1093-1098.