Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity

Nature Genetics

Volumn 10, Issue 2, 1995, Pages 135-142

  Naggert, Jürgen K ^a   Fricker, Lloyd D ^b   Varlamov, Oleg ^b   Nishina, Patsy M ^a   Rouille, Yves ^c   Steiner, Donald F ^c   Carroll, Raymond J ^c   Paigen, Beverly J ^a   Leiter, Edward H ^a  

^a JACKSON LABORATORY   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYPEPTIDASE; HORMONE PRECURSOR; INSULIN;

ANIMAL EXPERIMENT; ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 8; ENZYME ACTIVITY; ENZYME INHIBITION; GENE MUTATION; HYPERINSULINEMIA; INSULIN SYNTHESIS; MOUSE; NONHUMAN; OBESITY; PRIORITY JOURNAL; PROTEIN PROCESSING;

AMINO ACID SEQUENCE; ANIMAL; BASE SEQUENCE; CARBOXYPEPTIDASES; CATTLE; CHROMOSOME MAPPING; COMPARATIVE STUDY; CONSERVED SEQUENCE; ENZYME ACTIVATION; FEMALE; ISLETS OF LANGERHANS; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED NOD; MICE, OBESE; MICE, SCID; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; PITUITARY GLAND; PROINSULIN; RATS; SEQUENCE ALIGNMENT; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; TRANSFECTION;

ANIMALIA; STEATOMYS PRATENSIS;

EID: 0029040210     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0695-135     Document Type: Article

References (41)

1. Leiter, E. Obesity genes and diabetes induction in the mouse. Crit. Rev. FoodSci. Nutr. 33, 333-338 (1993).
2. Bray, G. A., Fisler, J. & York, D. A. Neuroendocrine control of the development of obesity: understanding gained from studies of experimental animal models. Front Obesity. 11, 128-181 (1990).
3. iapy is correlated with methylation state and is influenced by parental lineage. Genes Devel. 8, 1463-1472. (1994).
4. Lu, D. et al. Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor. Nature 371, 799-802 (1994).
5. Zhang, Y. et al. Positional cloning of the mouse obese gene and its human homologue. Nature 372, 425-432 (1994).
6. Coleman, D. L. & Eicher, E. M. Fat (fat) and tubby (tub), two autosomal recessive mutations causing obesity syndromes in the mouse. J. Hered. 81, 424-427 (1990).
7. Coleman, D. L. Obese and diabetes: two mutant genes causing diabetes-obesity syndromes in mice. Diabetologia 14, 141-148 (1978).
8. Leiter, E. & Chapman, H. Obesity-induced diabetes (diabesity) in C57BL/KsJ mice produces aberrant trans-regulation of sex steroid sulfotransferase genes. J. Clin. Invest. 93, 2007-2013 (1994).
9. Leiter, E., Chapman, H. & Falany, C. Synergism of obesity genes with hepatic steroid sulfotransferases to mediate diabetes in mice. Diabetes40, 1360-1363 (1991).
10. Paigen, B. J. & Coleman, D. L. Linkage of fat to esterase-1. Mouse Genome86, 240 (1990).
11. Fricker, L. D., in Peptide Biosynthesis and Processing (ed Fricker, L. D.) 199-228 (CRC Press, Boca Baton, 1991).
12. Dietrich, W. F. et al. A genetic map of the mouse with 4, 006 simple sequence length polymorphisms. Nature Genet. 7, 220-245 (1994).
13. Steiner, D. F., Smeekens, S. P., Ohagi, S. & Chan, S. J. The new enzymology of precursor processing endopeptidases. J. biol. Chem. 267, 23435-23438 (1992).
14. Rhodes, C. J. & Alarcón, C. What-cell defect could lead to hyperproinsulinemia in NIDDM?. Diabetes. 43, 511-517 (1994).
15. Davidson, H. W. & Mutton, J. C. The insulin secretory granule carboxypeptidase H. Purification and demonstration of involvement in proinsulin processing. Biochem. J. 245, 575-582 (1987).
16. Orci, L. et al. Direct identification of prohormone conversion site in insulin secreting cells. Cell 42, 671-681 (1985).
17. Manser, E. et al. Human carboxypeptidase E: isolation and characterization of the cDNA, sequence conservation, expression, and processing in vitro. Biochem. J. 267, 517-525 (1990).
18. Fricker, L. D. et al. Isolation and sequence analysis of a cDNA for rat carboxypeptidase E [EC 3. 4. 17. 10], a neuropeptide processing enzyme. Molec. Endocrinol. 3, 666-673 (1989).
19. Fricker, L. D., Evans, C. J., Each, F. S. & Herbert, E. Cloning and sequence analysis of cDNA for bovine carboxypeptidase E. Nature 323, 461-464 (1986).
20. Roth, W. W., Mackin, R. B., Spiess, J., Goodman, R. E. & Noe, B. D. Primary structure and tissue distribution of anglerfish carboxypeptidase E. Molec. cell. Endocrinol. 78, 171-178 (1991).
21. Gidh-Jain, M. et al. Glucokinase mutation associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: Implications for structure/function relationships. Proc. Natl. Acad. Sci. USA90, 1932-1936 (1993).
22. Hager, M. et al. A missense mutation in the glycogen receptor gene is associated with non-insulin-dependent diabetes mellitus. Nature Genet. 9, 299-304 (1995).
23. Leonetti, D. L., Prigeon, R. L., Boyko, E. J., Bergstrom, R. W. & Fujimoto, W. Y. Proinsulin as a marker for the development of NIDDM in Japanese-American men. Diabetes 44, 173-179 (1995).
24. Porte, D. J. & Kahn, S. E. Hyperproinsulinemia and amyloid in NIDDM: clues to the etiology of beta cell dysfunction. Diabetes 38, 1333-1336 (1989).
25. Porte, D.-cells in type II diabetes mellitus. Diabetes 40, 166-180 (1991).
26. Steiner, D. F. et al. Lessons learned from molecular biology of insulin gene mutations. Diabetes Care 13, 600-609 (1990).
27. Birkeland, K. I., Torjesen, P. A., Eriksson, J., Vaaler, S. & Groop, L. Hyperproinsulinemia of type II diabetes is not present before the development of hyperglycemia. Diabetes Care. 17, 1307-1310 (1994).
28. Gadot, M. et al. Hyperproinsulinemia and insulin deficiency in the diabetic Psammomys obesus. Endocrinology. 135, 610-616 (1994).
29. Poffenbarger, P. L., Chick, W. L., Lavine, R. L., Soeldner, J. S. & Flewelling, J. H. Insulin biosynthesis in experimental hereditary diabetes. Diabetes20, 677-685 (1971).
30. Flatt, P. R., Bailey, C. J., Hampton, S. M., Swanston-Flatt, S. K. & Marks, V., C-peptide in spontaneous syndromes of obesity and diabetes in mice. Norm. Metabol. Res. 19, 1-5 (1987).
31. Ozcelik, T., Suedhof, T. C. & Francke, U. Chromosomal assignment of genes for vacuolar (endomembrane) proton pump subunits VPP1/Vpp-1 (116 KDa) and VPP3/Vpp-3 (58 kd) in human and mouse. Cytogen. Cell Genet. 58, 2008-2009 (1991).
32. Orci, L. et al. pH-independent and-dependent cleavage of proinsulin in the same secretory vesicle. J. Cell Biol. 126, 1149-1156 (1994).
33. Jung, Y.-K., Kunczt, C. J., Pearson, R. K., Dixon, J. E. & Fricker, L. D. Structural characterization of the rat carboxypeptidase-E gene. Molec. Endocrinol. 5, 1257-1268 (1991).
34. Stone, R. L. et al. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nature Genet. 1, 59-63 (1992).
35. Leiter, E. H. Type C retrovirus production by pancreatic beta cells. Association with accelerated pathogenesis in C3H-db/db ("diabetes") mice. Am. J. Pathol 119, 22-32 (1985).
36. Prochazka, M., Serreze, D. V., Frankel, W. N. & Leiter, E. H. NOR/Lt; MHC-matched diabetes-resistant control strain for NOD mice. Diabetes 41, 98-106 (1992).
37. Lander, E. et al. MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations. Genomics 1, 174-181 (1987).
38. Manley, K. A Macintosh program for storage and analysis of experimental genetic mapping data. Mamm. Genome 4, 301-313 (1993).
39. Tager, H. S., Rubenstein, A. H. & Steiner, D. F. in Methods in Enzymology(eds O’Malley, B. W. & Hardman, J. G.) 326-345 (Academic Press, New York, 1975).
40. Fricker, L. D. Methods for studying carboxypeptidase E. Meth. Neurosci. 23, 237-250 (1995).
41. Fricker, L. D., Das, B. & Angeletti, R. H. Identification of the pH-dependent membrane anchor of carboxypeptidase E (EC 3. 4. 17. 10). J. biol. Chem. 265, 2476-2482 (1990).