Neurogenic differentiation 1 (NeuroD1), also called β2,[1] is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1.
It is a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus.[2]
↑Zhao L, Guo M, Matsuoka TA, Hagman DK, Parazzoli SD, Poitout V, Stein R (Mar 2005). "The islet beta cell-enriched MafA activator is a key regulator of insulin gene transcription". The Journal of Biological Chemistry. 280 (12): 11887–94. doi:10.1074/jbc.M409475200. PMID15665000.
↑Ratineau C, Petry MW, Mutoh H, Leiter AB (Mar 2002). "Cyclin D1 represses the basic helix-loop-helix transcription factor, BETA2/NeuroD". The Journal of Biological Chemistry. 277 (11): 8847–53. doi:10.1074/jbc.M110747200. PMID11788592.
Further reading
Fajans SS, Bell GI, Polonsky KS (Sep 2001). "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young". The New England Journal of Medicine. 345 (13): 971–80. doi:10.1056/NEJMra002168. PMID11575290.
Cho JH, Tsai MJ (Aug 2004). "The role of BETA2/NeuroD1 in the development of the nervous system". Molecular Neurobiology. 30 (1): 35–47. doi:10.1385/MN:30:1:035. PMID15247487.
Chae JH, Stein GH, Lee JE (Dec 2004). "NeuroD: the predicted and the surprising". Molecules and Cells. 18 (3): 271–88. PMID15650322.
Tamimi R, Steingrimsson E, Copeland NG, Dyer-Montgomery K, Lee JE, Hernandez R, Jenkins NA, Tapscott SJ (Jun 1996). "The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2". Genomics. 34 (3): 418–21. doi:10.1006/geno.1996.0306. PMID8786144.
Yokoyama M, Nishi Y, Miyamoto Y, Nakamura M, Akiyama K, Matsubara K, Okubo K (Nov 1996). "Molecular cloning of a human neuroD from a neuroblastoma cell line specifically expressed in the fetal brain and adult cerebellum". Brain Research. Molecular Brain Research. 42 (1): 135–9. doi:10.1016/S0169-328X(96)00154-4. PMID8915591.
Yokoyama M, Nishi Y, Yoshii J, Okubo K, Matsubara K (Oct 1996). "Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles". DNA Research. 3 (5): 311–20. doi:10.1093/dnares/3.5.311. PMID9039501.
Acharya HR, Dooley CM, Thoreson WB, Ahmad I (Apr 1997). "cDNA cloning and expression analysis of NeuroD mRNA in human retina". Biochemical and Biophysical Research Communications. 233 (2): 459–63. doi:10.1006/bbrc.1997.6483. PMID9144558.
Furuta H, Horikawa Y, Iwasaki N, Hara M, Sussel L, Le Beau MM, Davis EM, Ogata M, Iwamoto Y, German MS, Bell GI (Aug 1998). "Beta-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. 47 (8): 1356–8. doi:10.2337/diabetes.47.8.1356. PMID9703340.
Yoon YS, Noma T, Yamashiro Y, Ito H, Nakazawa A (Jul 1998). "Molecular cloning and characterization of the gene encoding human NeuroD". Neuroscience Letters. 251 (1): 17–20. doi:10.1016/S0304-3940(98)00490-X. PMID9714454.
Miyachi T, Maruyama H, Kitamura T, Nakamura S, Kawakami H (Jun 1999). "Structure and regulation of the human NeuroD (BETA2/BHF1) gene". Brain Research. Molecular Brain Research. 69 (2): 223–31. doi:10.1016/S0169-328X(99)00112-6. PMID10366743.
Noma T, Yoon YS, Yamashiro Y, Fujisawa K, Nakazawa A (Sep 1999). "Regulation of NeuroD expression by activation of the protein kinase-C pathway in Y79 human retinoblastoma cells". Neuroscience Letters. 272 (1): 45–8. doi:10.1016/S0304-3940(99)00569-8. PMID10507539.
Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS (Nov 1999). "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus". Nature Genetics. 23 (3): 323–8. doi:10.1038/15500. PMID10545951.
Glick E, Leshkowitz D, Walker MD (Jan 2000). "Transcription factor BETA2 acts cooperatively with E2A and PDX1 to activate the insulin gene promoter". The Journal of Biological Chemistry. 275 (3): 2199–204. doi:10.1074/jbc.275.3.2199. PMID10636926.
Onions J, Hermann S, Grundström T (Apr 2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry. 39 (15): 4366–74. doi:10.1021/bi992533u. PMID10757985.
Mochizuki M, Amemiya S, Kobayashi K, Kobayashi K, Ishihara T, Aya M, Kato K, Kasuga A, Nakazawa S (Jan 2002). "The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese". Diabetes Research and Clinical Practice. 55 (1): 11–7. doi:10.1016/S0168-8227(01)00242-X. PMID11755474.
Ratineau C, Petry MW, Mutoh H, Leiter AB (Mar 2002). "Cyclin D1 represses the basic helix-loop-helix transcription factor, BETA2/NeuroD". The Journal of Biological Chemistry. 277 (11): 8847–53. doi:10.1074/jbc.M110747200. PMID11788592.
Westerman BA, Poutsma A, Maruyama K, Schrijnemakers HF, van Wijk IJ, Oudejans CB (Apr 2002). "The proneural genes NEUROD1 and NEUROD2 are expressed during human trophoblast invasion". Mechanisms of Development. 113 (1): 85–90. doi:10.1016/S0925-4773(01)00665-7. PMID11900979.
Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T (Sep 2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metabolism. 51 (9): 1161–5. doi:10.1053/meta.2002.34707. PMID12200761.