Exonic and intronic sequence variation in the human leptin receptor gene (LEPR)

Diabetes

Volumn 46, Issue 9, 1997, Pages 1509-1511

  Chung, Wendy K ^a   Power Kehoe, Loraine ^a   Chua, Melvin ^a   Chu, Florence ^a   Aronne, Louis ^a   Huma, Zilla ^b   Sothern, Melinda ^c   Udall, John N ^c   Kahle, Bowie ^d   Leibel, Rudolph L ^a,e  

^a ROCKEFELLER UNIVERSITY   (United States)

^b Department of Obstetrics Gynecology   (United States)

^c LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MARSHALL UNIVERSITY   (United States)

^e Box 181 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LEPTIN;

AMINO ACID SEQUENCE; ARTICLE; BODY FAT; DIABETES MELLITUS; EXON; GENE MAPPING; HUMAN; INTRON; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 15144353456     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diab.46.9.1509     Document Type: Article

References (17)

1. Stern MP: Type II diabetes and its macrovascular complications. In New Horizons in Diabetes Mellitus and Cardiocascular Disease. Schwartz CL, Born GVR, Eds. London, Current Science, 1995, p. 1-10
2. Bouchard C: The Genetics of Obesity. Boca Raton, FL, CRC Press, 1994
3. Duggirala R, Stern MP, Mitchell BD, Reinhart LJ, Shipman PA, Uresandi OC, Chung WK, Leibel RL, Hales CN, O'Connell P, Blangero J: Quantitative variation in obesity-related traits and insulin precursors linked to OB gene region on human chromosome 7. Am J Hum Genet 59:694-703, 1996
4. Thompson DB, Janssen RC, Ossowski VM, Prochazka M, Knowler WC, Bogardus C: Evidence for linkage between a region on chromosome 1p and the acute insulin response in Pima Indians. Diabetes 44:478-481, 1995
5. Chagnon YC, Lamothe M, Preusse L, Chagnon M, Gagnon J, Nadeau A, Chung WK, Power-Kehoe L, Chua SC, Leibel RL, Bouchard C: Suggestive genetic linkages between markers on human 1p32-p22 and body fat and insulin levels in the Quebec Family Study. Obes Res 5:115-121, 1997
6. Tartaglia LA, Dembski M, Weng X, Deng N, Culpepper J, Devos R, Richards GJ, Campfield LA, Clark FT, Deeds J, Muir C, Sanker S, Moiarty A, Moore KJ, Smutko JS, Mays GG, Woolf EA, Monroe CA, Tepper RI: Identification and expression cloning of a leptin receptor, OB-R. Cell 83:1263-1271, 1995
7. Chen H, Charlat O, Tartaglia LA, Woolf EA, Weng X, Ellis SJ, Lakey ND, Culpepper J, Moore KJ, Breitbart RE, Duyk GM, Tepper RI, Morgenstern JP: Evidence that the diabetes gene encodes the leptin receptor identification of a mutation in the leptin receptor gene in db/db mice. Cell 84:491-495, 1996
8. Chua SC, Chung WK, Wu-Peng XS, Zhang Y, Liu S-M, Tartaglia L, Leibel RL: Phenotypes of mouse diabetes and rat fatty due to mutations in the OB (leptin) receptor. Science 27:994-996, 1996
9. Wu-Peng XS, Chua SC Jr, Okada N, Liu S-M, Nicolson M, Leibel RL: Phenotype of the obese Koletsky (f) rat due to Tyr763Stop mutation in the extracellular domain of the leptin receptor (Lepr): evidence for deficient plasmato-CSF transport of leptin in both the Zucker and Koletsky obese rat. Diabetes 46:513-518, 1997
10. Chung WK, Power-Kehoe L, Chua M, Leibel RL: Mapping of the OB receptor (OBR) to 1p in a region of non-conserved gene order from mouse and rat to human. Genome Res 6:431-438, 1996
11. Chung WK, Power-Kehoe L, Chua M, Lee R, Leibel RL: Genomic structure of the human OB receptor (OBR) and identification of two novel intronic microsatellites. Genome Res 6:1192-1199, 1996
12. Rosenbaum M, Nicolson M, Hirsch J, Heymsfield SB, Gallagher D, Chu F, Leibel RL: Effects of gender, body composition, and menopause on plasma concentrations of leptin. J Clin Endocrinol Metab 81:3424-3427, 1996
13. Chua SC Jr, White DW, Wu-Peng XS, Liu S-M, Okada N, Kershaw EE, Chung WK, Power-Kehoe L, Chua M, Tartaglia LA, Leibel RL: Phenotype of fatty due to Gln269Pro mutation in the leptin receptor (Lepr). Diabetes 45:1141-1143, 1996
14. Lee G-H, Proenca R, Montez JM, Carroll KM, Darvishzadeth JG, Lee JI, Friedman JM: Abnormal splicing of the leptin receptor in diabetic mice. Nature 379:632-655, 1996
15. Considine RV, Considine EL, Williams CJ, Hyde TM, Caro JF: The hypothalamic leptin receptor in humans: identification of incidential sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations. Diabetes 45:992-994, 1996
16. Phillips MS, Liu Q, Hammond HA, Dugan V, Hey PJ, Caskey CT, Hess JF: Leptin receptor missense mutation in the fatty Zucker rat. Nature Genet 13:18-19, 1996
17. Echwald SM, Sorensen TD, Sorensen TIA, Tybjaerghansen A, Andersen T, Chung WK, Leibel RL, Pedersen O: Amino-acid variants in the human leptin receptor: lack of association to juvenile-onset obesity. Biochem Biophys Res Commun 233:248-252, 1997