Identification of trinucleotide repeat-containing genes in human pancreatic islets

Diabetes

Volumn 45, Issue 2, 1996, Pages 157-164

  Aoki, Minoru ^a   Koranyi, Laszlo ^c   Riggs, Andrew C ^a   Wasson, Jon ^a   Chiu, Ken C ^a   Vaxillaire, Martine ^b   Froguel, Philippe ^b   Gough, Stephen ^d   Liu, Li ^e   Donis Keller, Helen ^a   Permutt, M Alan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SAINT LOUIS HOSPITAL   (France)

^c Department of Metabolic Diseases   (Hungary)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e Box 8127 ^*

Author keywords

[No Author keywords available]

Indexed keywords

IRON BINDING PROTEIN; REGULATOR PROTEIN; TRINUCLEOTIDE;

ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; GENE EXPRESSION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENOME; HUMAN; HUMAN CELL; HUMAN TISSUE; INSULIN DEPENDENT DIABETES MELLITUS; NEUROPSYCHIATRY; NUCLEOTIDE REPEAT; PANCREAS ISLET CELL; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SOMATIC CELL GENETICS;

EID: 13344280348     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diab.45.2.157     Document Type: Article

References (48)

1. Rotter JI, Vadheim CM, Rimoin DL: Genetics of diabetes mellitus In Diabetes Mellitus. Theory and Practice. 4th ed. Rifkin H, Porte DJ, Eds. New York, Elsevier, 1990, p 378-413
2. O'Rahilly SO, Wainscoat JS, Turner RC: Type 2 (non-insulin-dependent) diabetes mellitus: new genetics for old nightmares. Diabetologia 31:407-414, 1988
3. Barnett AH, Eff C, Leslie RD, Pyke DA: Diabetes in identical twins: a study of 200 pairs Diabetologia 20:87-93, 1981
4. Knowler WC, Pettitt DJ, Saad MF, Bennett PH: Diabetes mellitus in the Pima Indians: incidence, risk factors and pathogenesis Diabetes Metab Rev 6:1-27, 1990
5. Harris MI, Hadden WC, Knowler WC, Bennett PH: Prevalence of diabetes and impaired glucose tolerance and plasma glucose levels in U.S. population aged 20-74 years. Diabetes 36:523-534, 1987
6. Zimmet P: Type 2 (non-insulin-dependent) diabetes, an epidemiological overview. Diabetologia 22:399-441, 1982
7. Collins FS: Positional cloning moves from perditional to traditional. Nature Genet 9:347-350, 1995
8. Matsutani A, Koranyi L, Cox N, Permutt MA: Polymorphisms of GLUT2 and GLUT4 genes, use in evaluation of genetic susceptibility to NIDDM in blacks. Diabetes 39:1534-1542, 1990
9. Tanizawa Y, Koranyi LI, Welling CM, Permutt MA: Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs. Proc Natl Acad Sci USA 88:7294-7297, 1991
10. Miwa S. Triplet repeats strike again. Nature Genet 6:3-4, 1994
11. Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 6:9-13, 1994
12. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, Permutt MA, Beckmann JS, Bell GI, Cohen D: Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 328:697-702, 1903
13. Permutt MA, Koranyi L, Keller K, Lacy PE, Scharp DW, Mueckler M: Cloning and functional expression of a human pancreatic islet glucose-transporter cDNA. Proc Natl Acad Sci USA 86:8688-8692, 1989
14. Riggins GJ, Lokey LK, Chastain JL, Leiner HA, Shermart SL, Wilkinson KD, Warren ST: Human genes containing polymorphic trinucleotide repeats. Nature Genet 2, 186-191, 1992
15. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SCL, Jenkins SC, Palmer SM, Balfour KM, Rowe BR, Farrall M, Barnett AH, Bain SC, Todd JA: A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371:130-136, 1994
16. Matsutani A, Janssen R, Donis-Keller H, Permutt MA: A polymorphic (CA)n repeat element maps the human glucokinase gene Genomics 12:319-325, 1992
17. Kneteman NM, Alderson D, Scharp DW, Lacy PE: Long-term cryogenic storage of purified adult human islets of Langerhans. Diabetes 38:386-396, 1989
18. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual. 2nd ed. Cold Spring Harbor, NY, Cold Spring Harbor, 1989
19. Chomczynski P, Sacchi N: Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159, 1987
20. Chiu KC, Province MA, Permutt MA Glucokinase gene is genetic marker for NIDDM in American blacks. Diabetes 41:843-849, 1992
21. Weaver R, Helms C, Mishra SK, Donis-Keller H Software for analysis and manipulation of genetic linkage data Am J Hum Genet 50:1267-1274, 1992
22. Vaxillaire M, Vionnet N, Vigouroux C, Sun F, Espinosa R III, Lebeau MM, Stoffel M, Lehto M, Beckmann JS, Detheux M, Passa P, Cohen D, van Schaftingen E, Velho G, Bell GL, Froguel P: Search for a third susceptibility gene for maturity-onset diabetes of the young: studies with eleven candidate genes Diabetes 43:389-395, 1994
23. Caskey CT, Pizzuti A, Fu Y, Fenwick RGJ, Nelson DL: Triplet repeat mutations in human disease. Science 256:784-789, 1992
24. Singh BM, Grunewald RA, Press M, Wise PH. Prevalence of haemochromatosis amongst patients with diabetes mellitus. Diabetic Med 9:730-731, 1992
25. Phelps G, Hall P, Chapman I, Braund W, MacKinnon M: Prevalence of genetic haemochromatosis among diabetic patients. Lancet ii:233-234, 1989
26. Kozak M: Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs. Nucleic Acids Res 12:857-870, 1984
27. Morell V: The puzzle of the triple repeats. Science 260:1422-1423, 1993
28. Davies KE: The costs of instability. Nature 356:15, 1992
29. Lindblad K, Zander C, Schalling M, Hudson T: Growing triplet repeats. Nature Genet 7:124, 1994
30. Li S, McInnis MG, Margolis RL, Antonarakis SE, Ross CA: Novel triplet repeat containing genes in human brain cloning, expression, and length polymorphisms Genomics 16:572-579, 1993
31. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow N, Baker E, Holman K, Mulley JC, Warren ST, Schlessinger D, Sutherland GR, Richards RI: Fragile X genotype characterized by an unstable region of DNA. Science 252:1179-1181, 1991
32. Verkerk AJMH, Pieretti M, Sutclilfe JS, Fu Y, Kuhl KPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CG, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914, 1991
33. Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI: Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252:1711-1714, 1991
34. Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phels SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE: Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134, 1993
35. Parrish JE, Oostra BA, Verkerk AJ, Richards CS, Reiynolds J, Spikes AS, Shaffer LG, Nelson DL: Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet 8:229-235, 1994
36. Nancarrow JK, Kremer E, Holman K, Eyre H, Doggett NA, LePaslie D, Callen DF, Sutherland GR, Richards RI: Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science 264: 1938-1941, 1994
37. Jones C, Penny L, Mattina T, Yu S, Baker E, Voullaire L, Langdon WY, Sutherland GR, Richards RI, Tunnacliffe A: Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL 2. Nature 376:145-149, 1995
38. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH: Androgen receptor gene mutations in X-linked spinal bulbar muscular atrophy. Nature 352:77-79, 1991
39. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4:221-226, 1993
40. Imbert G, Kretz C, Johnson K, Mandel J: Origin of the expansion mutation in myotonic dystrophy. Nature Genet 4:72-76, 1993
41. Fu Y, Pizzuti A, Fenwick RGJ, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, DeJong P, Wieringa B, Korneluk R, Perryman MB, Epstein HF, Caskey CT: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258, 1992
42. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, Leblond S, Earle-MacDonald J, deJong PJ, Wieringa B, Korneluk RG: Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255, 1992
43. The Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expended and unstable on Huntington's disease chromosome. Cell 72:971-983, 1993
44. Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino M, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M: Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6:14-18, 1994
45. Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, Vannice JM: The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet 7:521-524, 1994
46. Kawaguchi Y, Koamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8:221-228, 1994
47. Dong J, Asa SL, Drucker DJ: Islet cell and extrapancreatic expression of the LIM domain homeobox gene isf-1. Mol Endocrinol 5:1633-1641, 1991
48. Thor S, Ericson J, Brannstrom T, Edlund T: The homeodomain LIM protein Isl-1 is expressed in subsets of neurons and endocrine cells in the adult rat. Neuron 7:881-889, 1991