Neurogenic differentiation 1 (Neurod1), also called β2,[5] is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1.
In mice, Neurod1 expression is first seen at embryonic day 12 (E12).[6]
It is a member of the Neurod family of basic helix-loop-helix (bHLH) transcription factors, composed of Neurod1, Neurod2, Neurod4, and Neurod6. 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 in mouse models and in human clinical patients.[7]
Neurod1 is found to convert reactive glial cells into functional neurons in the mouse brain in vivo[8] In the adult cortex, Neurod1 expression is a marker of mature excitatory pyramidal neurons in the upper-most layers of the cortex.[9]
^Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, et al. (November 1999). "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus". Nature Genetics. 23 (3): 323–328. doi:10.1038/15500. PMID10545951. S2CID3216136.
Fajans SS, Bell GI, Polonsky KS (September 2001). "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young". The New England Journal of Medicine. 345 (13): 971–980. doi:10.1056/NEJMra002168. PMID11575290.
Tamimi R, Steingrimsson E, Copeland NG, Dyer-Montgomery K, Lee JE, Hernandez R, et al. (June 1996). "The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2". Genomics. 34 (3): 418–421. doi:10.1006/geno.1996.0306. PMID8786144.
Yokoyama M, Nishi Y, Miyamoto Y, Nakamura M, Akiyama K, Matsubara K, et al. (November 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): 135–139. doi:10.1016/S0169-328X(96)00154-4. PMID8915591.
Acharya HR, Dooley CM, Thoreson WB, Ahmad I (April 1997). "cDNA cloning and expression analysis of NeuroD mRNA in human retina". Biochemical and Biophysical Research Communications. 233 (2): 459–463. doi:10.1006/bbrc.1997.6483. PMID9144558.
Furuta H, Horikawa Y, Iwasaki N, Hara M, Sussel L, Le Beau MM, et al. (August 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): 1356–1358. doi:10.2337/diabetes.47.8.1356. PMID9703340.
Yoon YS, Noma T, Yamashiro Y, Ito H, Nakazawa A (July 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. S2CID39872130.
Miyachi T, Maruyama H, Kitamura T, Nakamura S, Kawakami H (June 1999). "Structure and regulation of the human NeuroD (BETA2/BHF1) gene". Brain Research. Molecular Brain Research. 69 (2): 223–231. doi:10.1016/S0169-328X(99)00112-6. PMID10366743.
Noma T, Yoon YS, Yamashiro Y, Fujisawa K, Nakazawa A (September 1999). "Regulation of NeuroD expression by activation of the protein kinase-C pathway in Y79 human retinoblastoma cells". Neuroscience Letters. 272 (1): 45–48. doi:10.1016/S0304-3940(99)00569-8. PMID10507539. S2CID3158332.
Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, et al. (November 1999). "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus". Nature Genetics. 23 (3): 323–328. doi:10.1038/15500. PMID10545951. S2CID3216136.
Onions J, Hermann S, Grundström T (April 2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry. 39 (15): 4366–4374. doi:10.1021/bi992533u. PMID10757985.
Mochizuki M, Amemiya S, Kobayashi K, Kobayashi K, Ishihara T, Aya M, et al. (January 2002). "The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese". Diabetes Research and Clinical Practice. 55 (1): 11–17. doi:10.1016/S0168-8227(01)00242-X. PMID11755474.
Westerman BA, Poutsma A, Maruyama K, Schrijnemakers HF, van Wijk IJ, Oudejans CB (April 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. S2CID11607202.
Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T (September 2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metabolism. 51 (9): 1161–1165. doi:10.1053/meta.2002.34707. PMID12200761.