{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:08:14Z","timestamp":1761894494859},"reference-count":15,"publisher":"American Diabetes Association","issue":"3","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2001,3,1]]},"abstract":"<jats:p>Mutations in transcription factors that play a role in the development of the endocrine pancreas, such as insulin promoter factor-1 and NeuroD1\/BETA2, have been associated with diabetes. Cell type\u2013specific members of the basic helix-loop-helix (bHLH) family of transcription factors play essential roles in the development and maintenance of many differentiated cell types, including pancreatic \u03b2-cells. Neurogenin 3 is a bHLH transcription factor that is expressed in the developing central nervous system and the embryonic pancreas. Mice lacking this transcription factor fail to develop any islet endocrine cells and die postnatally from diabetes. Because neurogenin 3 is required for the development of \u03b2-cells and other pancreatic islet cell types, we considered it a candidate diabetes gene. We screened the coding region of the human neurogenin 3 gene (NEUROG3) for mutations in a group of unrelated Japanese subjects with maturity-onset diabetes of the young (MODY). We found three sequence variants: a deletion of 2-bp in the 5\u2032-untranslated region (NEUROG3-g.-44\u201345delCA), a G-to-A substitution in codon 167 (g.499G\/A), resulting in a Gly-to-Arg replacement (G\/R167), and a T-to-C substitution in codon 199 (g.596T\/C), resulting in a Phe\/Ser polymorphism F\/S199. These polymorphisms were not associated with MODY, thereby suggesting that mutations in NEUROG3 are not a common cause of MODY in Japanese patients.<\/jats:p>","DOI":"10.2337\/diabetes.50.3.694","type":"journal-article","created":{"date-parts":[[2007,3,6]],"date-time":"2007-03-06T19:04:22Z","timestamp":1173207862000},"page":"694-696","update-policy":"http:\/\/dx.doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":13,"title":["Mutations in the Coding Region of the Neurogenin 3 Gene (<i>NEUROG3<\/i>) Are Not a Common Cause of Maturity-Onset Diabetes of the Young in Japanese Subjects"],"prefix":"10.2337","volume":"50","author":[{"given":"Laura","family":"del Bosque-Plata","sequence":"first","affiliation":[{"name":"Howard Hughes Medical Institute and the"},{"name":"Departments of Biochemistry and Molecular Biology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Lin","sequence":"additional","affiliation":[{"name":"Hormone Research Institute and Department of Medicine, University of California San Francisco, San Francisco, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukio","family":"Horikawa","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute and the"},{"name":"Departments of Biochemistry and Molecular Biology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter E.H.","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute and the"},{"name":"Departments of Biochemistry and Molecular Biology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy J.","family":"Cox","sequence":"additional","affiliation":[{"name":"Medicine, and"},{"name":"Human Genetics, the University of Chicago, Chicago, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoko","family":"Iwasaki","sequence":"additional","affiliation":[{"name":"Diabetes Center, Tokyo Women\u2019s Medical University, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makiko","family":"Ogata","sequence":"additional","affiliation":[{"name":"Diabetes Center, Tokyo Women\u2019s Medical University, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiko","family":"Iwamoto","sequence":"additional","affiliation":[{"name":"Diabetes Center, Tokyo Women\u2019s Medical University, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael S.","family":"German","sequence":"additional","affiliation":[{"name":"Hormone Research Institute and Department of Medicine, University of California San Francisco, San Francisco, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graeme I.","family":"Bell","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute and the"},{"name":"Departments of Biochemistry and Molecular Biology"},{"name":"Medicine, and"},{"name":"Human Genetics, the University of Chicago, Chicago, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1167","reference":[{"key":"2022031207035246600_R1","doi-asserted-by":"crossref","unstructured":"Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Turner RC, Velho G, Che\u0300vre J-C, Froguel P, Bell GI: Mutations in the hepatocyte nuclear factor-1\u03b1 gene in maturity-onset diabetes of the young (MODY3). Nature\u2008384:455\u2013458, 1996","DOI":"10.1038\/384455a0"},{"key":"2022031207035246600_R2","doi-asserted-by":"crossref","unstructured":"Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI: Mutation in hepatocyte nuclear factor-1\u03b2 gene (TCF2) associated with MODY. Nat Genet\u200817:384\u2013385, 1997","DOI":"10.1038\/ng1297-384"},{"key":"2022031207035246600_R3","doi-asserted-by":"crossref","unstructured":"Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor-4\u03b1 gene in maturity-onset diabetes of the young (MODY1). Nature\u2008384:458\u2013460, 1996","DOI":"10.1038\/384458a0"},{"key":"2022031207035246600_R4","doi-asserted-by":"crossref","unstructured":"Stoffers DA, Ferrer J, Clarke WL, Habener JF: Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet\u200817:138\u2013139, 1997","DOI":"10.1038\/ng1097-138"},{"key":"2022031207035246600_R5","doi-asserted-by":"crossref","unstructured":"Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS: Mutations in NEUROD1 are associated with the development of type 2 diabetes. Nat Genet\u200823:323\u2013328, 1999","DOI":"10.1038\/15500"},{"key":"2022031207035246600_R6","doi-asserted-by":"crossref","unstructured":"Littlewood T, Ewan GI: Helix-Loop-Helix Transcription Factors . 3rd ed. Oxford, Oxford University Press, 1998","DOI":"10.1093\/oso\/9780198502487.001.0001"},{"key":"2022031207035246600_R7","doi-asserted-by":"crossref","unstructured":"Schwitzgebel VM, Scheel DW, Conners JR, Kalamaras J, Lee JE, Anderson DJ, Sussel L, Johnson JD, German MS: Expression of neurogenin3 reveals an islet cell precursor population in the pancreas. Development\u2008127:3533\u20133542, 2000","DOI":"10.1242\/dev.127.16.3533"},{"key":"2022031207035246600_R8","doi-asserted-by":"crossref","unstructured":"Apelqvist A, Li H, Sommer L, Beatus P, Anderson DJ, Honjo T, Hrabe de Angelis M, Lendahl U, Edlund H: Notch signalling controls pancreatic cell differentiation. Nature\u2008400:877\u2013881, 1999","DOI":"10.1038\/23716"},{"key":"2022031207035246600_R9","doi-asserted-by":"crossref","unstructured":"Jensen J, Heller RS, Funder-Nielsen T, Pedersen EE, Lindsell C, Weinmaster G, Madsen O, Serup P: Independent development of pancreatic \u03b1- and \u03b2-cells from neurogenin3-expressing precursors: a role for the notch pathway in repression of premature differentiation. Diabetes\u200849:163\u2013176, 2000","DOI":"10.2337\/diabetes.49.2.163"},{"key":"2022031207035246600_R10","doi-asserted-by":"crossref","unstructured":"Gradwohl G, Dierich A, LeMeur M, Guillemot F: neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas. Proc Natl Acad Sci U S A\u200897:1607\u20131611, 2000","DOI":"10.1073\/pnas.97.4.1607"},{"key":"2022031207035246600_R11","doi-asserted-by":"crossref","unstructured":"Ilag LL, Tabaei BP, Herman WH, Zawacki CM, D\u2019Souza E, Bell GI, Fajans SS: Reduced pancreatic polypeptide response to hypoglycemia and amylin response to arginine in subjects with a mutation in the HNF-4\u03b1\/MODY1 gene. Diabetes\u200849:961\u2013968, 2000","DOI":"10.2337\/diabetes.49.6.961"},{"key":"2022031207035246600_R12","doi-asserted-by":"crossref","unstructured":"Furuta H, Horikawa Y, Iwasaki N, Hara M, Sussel L, Le Beau MM, Davis EM, Ogata M, Iwamoto Y, German MS, Bell GI: \u03b2-cell transcription factors and diabetes: mutations in the coding region of the BETA2\/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese. Diabetes\u200847:1356\u20131358, 1998","DOI":"10.2337\/diabetes.47.8.1356"},{"key":"2022031207035246600_R13","doi-asserted-by":"crossref","unstructured":"Hinokio Y, Horikawa Y, Furuta H, Cox NJ, Iwasaki N, Honda M, Ogata M, Iwamoto Y, Bell GI: \u03b2-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3\u03b2 gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young. Diabetes\u200849:302\u2013305, 2000","DOI":"10.2337\/diabetes.49.2.302"},{"key":"2022031207035246600_R14","doi-asserted-by":"crossref","unstructured":"Furuta H, Iwasaki N, Oda N, Hinokio Y, Horikawa Y, Yamagata K, Yano N, Sugahiro J, Ogata M, Ohgwara H, Omori Y, Iwamoto Y, Bell GI: Organization and partial sequence of the hepatocyte nuclear factor-4\u03b1\/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY. Diabetes\u200846:1652\u20131657, 1997","DOI":"10.2337\/diacare.46.10.1652"},{"key":"2022031207035246600_R15","doi-asserted-by":"crossref","unstructured":"Antonarakis SE: Recommendations for a nomenclature system for human gene mutations: Nomenclature Working Group. Hum Mutat 11:1\u20133, 1998","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O"}],"container-title":["Diabetes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.org\/diabetes\/diabetes\/article-pdf\/50\/3\/694\/366449\/694.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article-pdf\/50\/3\/694\/366449\/694.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,11]],"date-time":"2024-02-11T13:55:27Z","timestamp":1707659727000},"score":1,"resource":{"primary":{"URL":"https:\/\/diabetesjournals.org\/diabetes\/article\/50\/3\/694\/11009\/Mutations-in-the-Coding-Region-of-the-Neurogenin-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,3,1]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,3,1]]}},"URL":"https:\/\/doi.org\/10.2337\/diabetes.50.3.694","relation":{},"ISSN":["0012-1797","1939-327X"],"issn-type":[{"value":"0012-1797","type":"print"},{"value":"1939-327X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,3,1]]}}}