MODY-like diabetes associated with an apparently balanced translocation: Possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes

Molecular Cytogenetics

Volumn 2, Issue 1, 2009, Pages

  Bhoj, Elizabeth J ^a   Romeo, Stefano ^a,b   Baroni, Marco G ^b   Bartov, Guy ^c   Schultz, Roger A ^c,d   Zinn, Andrew R ^a,c  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d Signature Genomic Laboratories LLC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANIMAL TISSUE; ARTICLE; CASE REPORT; CELL POLARITY; CHROMOSOME 10; DATA BASE; DIABETES MELLITUS; DNA SEQUENCE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE TRANSLOCATION; GENETIC TRANSCRIPTION; HNF4A GENE; HUMAN; HYBRID CELL; LYMPHOBLAST; MALE; MATURITY ONSET DIABETES MELLITUS; MOUSE; MPP7 GENE; NONHUMAN; PANCREAS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 63449139173     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-2-5     Document Type: Article

References (43)

1. Tolbutamide-induced improvement in carbohydrate tolerance of young people with mild diabetes mellitus. SS Fajans JW Conn, Diabetes 1960 9 83 88 13821363
2. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. G Velho P Froguel, Eur J Endocrinol 1998 138 233 239 10.1530/eje.0.1380233 9539292
3. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. R Saxena BF Voight V Lyssenko NP Burtt PI de Bakker H Chen JJ Roix S Kathiresan JN Hirschhorn MJ Daly, Science 2007 316 1331 1336 10.1126/science.1142358 17463246
4. The inherited basis of diabetes mellitus: implications for the genetic analysis of complex traits. JC Florez J Hirschhorn D Altshuler, Annu Rev Genomics Hum Genet 2003 4 257 291 10.1146/annurev.genom.4.070802.110436 14527304
5. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. SS Fajans GI Bell KS Polonsky, N Engl J Med 2001 345 971 980 10.1056/NEJMra002168 11575290
6. Genetic and clinical characteristics of maturity-onset diabetes of the young. FM Giuffrida AF Reis, Diabetes Obes Metab 2005 7 318 326 10.1111/j.1463-1326.2004.00399.x 15955117
7. Cloning the gene for an inherited human disorder -chronic granulomatous disease - on the basis of its chromosomal location. B Royer-Pokora LM Kunkel AP Monaco SC Goff PE Newburger RL Baehner FS Cole JT Curnutte SH Orkin, Nature 1986 322 32 38 10.1038/322032a0 2425263
8. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. K Yoshiura J Machida S Daack-Hirsch SR Patil LK Ashworth JT Hecht JC Murray, Genomics 1998 54 231 240 10.1006/geno.1998.5577 9828125
9. Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. E De Baere Y Fukushima K Small N Udar G Van Camp K Verhoeven A Palotie A De Paepe L Messiaen, Genomics 2000 68 296 304 10.1006/geno.2000.6304 10995571
10. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. ML Budarf J Collins W Gong B Roe Z Wang LC Bailey B Sellinger D Michaud DA Driscoll BS Emanuel, Nat Genet 1995 10 269 278 10.1038/ng0795-269 7670464
11. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. RV Jamieson N Farrar K Stewart R Perveen M Mihelec M Carette JR Grigg JW McAvoy FJ Lovicu PP Tam, Hum Mutat 2007 28 968 977 10.1002/humu.20545 17492639
12. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. PN Ray B Belfall C Duff C Logan V Kean MW Thompson JE Sylvester JL Gorski RD Schmickel RG Worton, Nature 1985 318 672 675 10.1038/318672a0 3001530
13. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. JL Holder Jr NF Butte AR Zinn, Hum Mol Genet 2000 9 101 108 10.1093/hmg/9.1.101 10587584
14. Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. AL Gloyn S Ellard M Shepherd RT Howell EM Parry A Jefferson ER Levy AT Hattersley, Diabetes 2002 51 2329 2333 10.2337/diabetes.51.7.2329 12086970
15. Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced translocation. KR Owen J Roland K Smith AT Hattersley, Diabet Med 2003 20 483 485 10.1046/j.1464-5491.2003.00961.x 12786684
16. The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. J Kamimura K Wakui H Kadowaki Y Watanabe K Miyake N Harada M Sakamoto A Kinoshita K Yoshiura T Ohta, J Hum Genet 2004 49 360 365 10.1007/s10038-004-0158-z 15221640
17. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. T Hearn GL Renforth C Spalluto NA Hanley K Piper S Brickwood C White V Connolly JF Taylor I Russell-Eggitt, Nat Genet 2002 31 79 83 11941370
18. Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. R Murphy J Baptista J Holly AM Umpleby S Ellard LW Harries J Crolla T Cundy AT Hattersley, J Clin Endocrinol Metab 2008 93 4373 4380 10.1210/jc.2008-0819 18728168
19. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. DR Matthews JP Hosker AS Rudenski BA Naylor DF Treacher RC Turner, Diabetologia 1985 28 412 419 10.1007/BF00280883 3899825
20. Natural history of pancreatic islet B-cell function in type 2 diabetes mellitus studied over six years by homeostasis model assessment. AS Rudenski DR Hadden AB Atkinson L Kennedy DR Matthews JD Merrett B Pockaj RC Turner, Diabet Med 1988 5 36 41 2964326
21. Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation. A Dubos S Pannetier A Hanauer, Am J Med Genet A 2008 146A 10 1267 1279 10.1002/ajmg.a.32274 18412109
22. Primer3 on the WWW for general users and for biologist programmers. S Rozen H Skaletsky, Methods Mol Biol 2000 132 365 386 10547847
23. Detection of large-scale variation in the human genome. AJ Iafrate L Feuk MN Rivera ML Listewnik PK Donahoe Y Qi SW Scherer C Lee, Nat Genet 2004 36 949 951 10.1038/ng1416 15286789
24. Widespread monoallelic expression on human autosomes. A Gimelbrant JN Hutchinson BR Thompson A Chess, Science 2007 318 1136 1140 10.1126/science. 1148910 18006746
25. Glutamic acid decarboxylase (GAD65) autoantibodies in prediction of beta-cell function and remission in recent-onset IDDM after cyclosporin treatment. The Canadian-European Randomized Control Trial Group. JS Petersen T Dyrberg AE Karlsen J Molvig B Michelsen J Nerup T Mandrup-Poulsen, Diabetes 1994 43 1291 1296 10.2337/diabetes.43.11.1291 7926302
26. Long-range control of gene expression: emerging mechanisms and disruption in disease. DA Kleinjan V van Heyningen, Am J Hum Genet 2005 76 8 32 15549674 10.1086/426833
27. A genome-wide association study identifies novel risk loci for type 2 diabetes. R Sladek G Rocheleau J Rung C Dina L Shen D Serre P Boutin D Vincent A Belisle S Hadjadj, Nature 2007 445 881 885 10.1038/nature05616 17293876
28. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. E Zeggini MN Weedon CM Lindgren TM Frayling KS Elliott H Lango NJ Timpson JR Perry NW Rayner RM Freathy, Science 2007 316 1336 1341 10.1126/science.1142364 17463249
29. Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. J Wirth T Wagner J Meyer RA Pfeiffer HU Tietze W Schempp G Scherer, Hum Genet 1996 97 186 193 10.1007/BF02265263 8566951
30. A gene atlas of the mouse and human protein-encoding transcriptomes. AI Su T Wiltshire S Batalov H Lapp KA Ching D Block J Zhang R Soden M Hayakawa G Kreiman, Proc Natl Acad Sci USA 2004 101 6062 6067 15075390 10.1073/pnas. 0400782101
31. Identification and characterization of human MPP7 gene and mouse Mpp7 gene in silico. M Katoh, Int J Mol Med 2004 13 333 338 14719143
32. The stardust family protein MPP7 forms a tripartite complex with LIN7 and DLG1 that regulates the stability and localization of DLG1 to cell junctions. J Bohl N Brimer C Lyons SB Vande Pol, J Biol Chem 2007 282 9392 9400 10.1074/jbc.M610002200 17237226
33. The MAGUK protein MPP7 binds to the polarity protein hDlg1 and facilitates epithelial tight junction formation. VM Stucke E Timmerman J Vandekerckhove K Gevaert A Hall, Mol Biol Cell 2007 18 1744 1755 17332497 10.1091/mbc.E06-11-0980
34. Hepatocyte nuclear factor (HNF)-4alpha triggers formation of functional tight junctions and establishment of polarized epithelial morphology in F9 embryonal carcinoma cells. H Chiba T Gotoh T Kojima S Satohisa K Kikuchi M Osanai N Sawada, Exp Cell Res 2003 286 288 297 10.1016/S0014-4827(03)00116-2 12749857
35. Hepatocyte nuclear factor 4 provokes expression of epithelial marker genes, acting as a morphogen in dedifferentiated hepatoma cells. GF Spath MC Weiss, J Cell Biol 1998 140 935 946 9472044 10.1083/jcb.140.4.935
36. Upregulation of the expression of tight and adherens junction-associated proteins during maturation of neonatal pancreatic islets in vitro. CB Collares-Buzato CP Carvalho AG Furtado AC Boschero, J Mol Histol 2004 35 811 822 10.1007/s10735-004-1746-0 15609094
37. Structural coupling between pancreatic islet cells. L Orci RH Unger AE Renold, Experientia 1973 29 1015 1018 10.1007/BF01930436 4582082
38. Cell contacts in human islets of Langerhans. L Orci F Malaisse-Lagae M Amherdt M Ravazzola A Weisswange R Dobbs A Perrelet R Unger, J Clin Endocrinol Metab 1975 41 841 844 1102552
39. Islet cells-tight junctions: changes in its number induced by glucose. MC Semino EE de Gagliardino JJ Gagliardino, Acta Physiol Pharmacol Latinoam 1987 37 533 539 3078933
40. Differentiating the effects of Cx36 and E-cadherin for proper insulin secretion of MIN6 cells. A Calabrese D Caton P Meda, Exp Cell Res 2004 294 379 391 10.1016/j.yexcr.2003.12.007 15023528
41. Junctional communication of pancreatic beta cells contributes to the control of insulin secretion and glucose tolerance. A Charollais A Gjinovci J Huarte J Bauquis A Nadal F Martin E Andreu JV Sanchez-Andres A Calabrese D Bosco, J Clin Invest 2000 106 235 243 10903339 10.1172/JCI9398
42. Insulin, glucagon, and somatostatin secretion in the regulation of metabolism. RH Unger RE Dobbs L Orci, Annu Rev Physiol 1978 40 307 343 10.1146/annurev.ph.40.030178.001515 205166
43. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. JL Hamerton N Canning M Ray S Smith, Clin Genet 1975 8 223 243 1183067