A missense mutation in the CD38 gene, a novel factor for insulin secretion: Association with Type II diabetes mellitus in Japanese subjects and evidence of abnormal function when expressed in vitro

Diabetologia

Volumn 41, Issue 9, 1998, Pages 1024-1028

  Yagui, K ^a   Shimada, F ^a   Mimura, M ^b   Hashimoto, N ^a   Suzuki, Y ^a   Tokuyama, Y ^a   Nata, K ^c   Tohgo, A ^c   Ikehata, F ^c   Takasawa, S ^c   Okamoto, H ^c   Makino, H ^d   Saito, Y ^a   Kanatsuka, A ^a  

^a CHIBA UNIVERSITY   (Japan)

^b Japan Labour Health and Welfare Organization   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

ADP ribosyl cyclase; CD38 gene; Cyclic ADP ribose; Cyclic ADP ribose hydrolase; Missense mutation; Susceptibility; Type II diabetes mellitus

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSE; CD38 ANTIGEN; CYCLIC NUCLEOTIDE; GLUCOSE TRANSPORTER; HYDROLASE; INSULIN;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME ACTIVITY; GENE FUNCTION; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; INSULIN RELEASE; JAPAN; MISSENSE MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADP-RIBOSYL CYCLASE; AMINO ACID SUBSTITUTION; ANIMALS; ANTIGENS, CD; ANTIGENS, CD38; ANTIGENS, DIFFERENTIATION; COS CELLS; DIABETES MELLITUS, TYPE 2; EXONS; FEMALE; GENE FREQUENCY; HUMANS; INSULIN; JAPAN; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MULTIENZYME COMPLEXES; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; NAD+ NUCLEOSIDASE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 15144357923     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250051026     Document Type: Article

References (29)

1. DeFronzo RA, Bonadonna RC, Ferrannini E (1992) Pathogenesis of NIDDM: a balanced overview. Diabetes Care 15: 318-368
2. Steiner DF, Tager HS, Chan SJ, Nanjo K, Sanke T, Rubinstein AH (1990) Lessons learned from molecular biology of insulin gene mutations. Diabetes Care 13: 600-609
3. Taylor SI, Cama A, Accili D (1992) Mutations in the insulin receptor gene. Endocrine Rev 13: 566-595
4. Makino H, Taira M, Shimada F (1992) Insulin receptor gene mutation: A molecular genetical and functional analysis. Cellular Signaling 4: 351-363
5. Froguel P, Zouali H, Vionnet N et al. (1993) Familial hyperalycemia due to mutation in glucokinase. N Eng J Med 328: 697-702
6. Hattersley AT, Turner RC, Permutt MA et al. (1992) Linkage of type 2 diabetes to the glucokinase gene. Lancet 339: 1307-1310
7. Shimada F, Makino H, Hashimoto H et al. (1993) Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia 36: 433-437
8. Ballinger SW, Shoffner JM, Hedaya EV et al. (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nature Genet 1: 11-15
9. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1: 368-371
10. Takasawa S, Nata K, Yonekura H, Okamoto H (1993) Cyclic ADP-ribose in insulin secretion from pancreatic β cells. Science 259: 370-373
11. Okamoto H, Takasawa S, Nata K (1997) The CD38-cyclic ADP-ribose signalling system in insulin secretion: molecular basis and clinical implications. Diabetologia 40: 1485-1491
12. 2+ mobilization in normal and diabetic β-cells. J Biol Chem 273: 2497-2500
13. Islam MS, Larsson O, Berggren PO (1993) Cyclic ADP-ribose in β cells. Science 262: 584-585
14. 2+ stores in insulin-secreting cells: lack of effect of cADP ribose. Cell Calcium 16: 71-80
15. 2+ concentration in the pancreatic β-cell are independent of cyclic ADP-ribose. J Biol Chem 271: 19074-19079
16. Takasawa S, Tohgo A, Noguchi N et al. (1993) Synthesis and hydrolysis of cyclic ADP-ribose by human leukocyte antigen CD38 and inhibition of the hydrolysis by ATP. J Biol Chem 268: 26052-26054
17. Koguma T, Takasawa S, Tohgo A et al. (1994) Cloning and characterization of cDNA encoding rat ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase (homologue to human CD38) from islets of Langerhans. Biochim Biophys Acta 1223: 160-162
18. Kato I, Takasawa S, Akabane A et al. (1995) Regulatory role of CD38 (ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase) in insulin secretion by glucose in pancreatic β cells. J Biol Chem 270: 30,045-30,050
19. World Health Organization Study Group on Diabetes Mellitus (1985) Technical Report Series No 727, WHO, Geneva, pp 1-113
20. Sambrook F, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. 2nd edn. Cold Spring Harbor, New York
21. Nata K, Takamura T, Karasawa T et al. (1997) Human gene encoding CD38 (ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase): organization, nucleotide sequence and alternative splicing. Gene 186: 285-292
22. Tohgo A, Takasawa S, Noguchi N et al. (1994) Essential cysteine residues for cyclic ADP-ribose synthesis and hydrolysis by CD38. J Biol Chem 269: 28555-28557
23. Okamoto H, Takasawa S, Tohgo A, Nata K, Kato I, Noguchi N (1997) Synthesis and hydrolysis of cyclic ADP-ribose by human leukocyte antigen CD38: Inhibition of hydrolysis by ATP and the physiological significance. Method Enzymol 280: 306-318
24. Knapp W (1989) Antibody code list of the B cell workshop section. Tissue antigens 33: 123
25. Bradfold MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72: 248-254
26. Tohgo A, Munakata H, Takasawa S et al. (1997) Lysine 129 of CD38 (ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase) participates in the binding of ATP to inhibit the cyclic ADP-ribose hydrolase. J Biol Chem 272: 3879-3882
27. Prasad GS, McRee DE, Stura EA, Levitt DG, Lee HC, Stout CD (1996) Crystal structural of Aplysia ADP ribosyl cyclase, a homologue of the bifunctional eckzyme CD 38, Nature Struct Biol 3: 957-964
28. Shimada F, Makino H, Iwaoka H et al. (1995) Identification of two novel amino acid polymorphisms in beta-cell/ liver (GLUT2) glucose transporter in Japanese subjects. Diabetologia 38: 211-215
29. Rotter JR, Vadheim CM, Rimoin DL (1990) Genetics of diabetes mellitus. In: Rifkin H, Porte D Jr (eds) Diabetes mellitus theory and practice. Elsevier, New York, pp 378-413