FEZF1
FEZ family zinc finger 1 is a protein that in humans is encoded by the FEZF1 gene.[5]
Clinical significance
[edit]FEZF1 is a gene that encodes for transcriptional repressors, and it has been shown to repress the transcription factor HES5.[6] In the mouse, FEZF1 is expressed in the forebrain in early development of the embryo. This suppression of HES5 helps to control the differentiation of neural stem cells.[6] FEZF1 also helps to divide the caudal forebrain into three distinct parts during development: the prethalamus, the thalamus, and the pretectum. Mice lacking FEZF1 had no prethalamus and had a smaller thalamus.[7] A loss of function mutation in FEZF1 causes Kallmann Syndrome.[8] As axons are developing and migrating in the early embryo, FEZF1 allows the axons of olfactory neurons to attach to the central nervous system in the mice model. During neural development, GnRH neurons migrate through one of these olfactory axon pathways, and the loss of function of FEZF1 therefore results in the loss of GnRH neurons in the brain, the hallmark of Kallmann Syndrome.[8]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000128610 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029697 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: FEZ family zinc finger 1".
- ^ a b Shimizu T, Nakazawa M, Kani S, Bae YK, Shimizu T, Kageyama R, Hibi M (June 2010). "Zinc finger genes Fezf1 and Fezf2 control neuronal differentiation by repressing Hes5 expression in the forebrain". Development. 137 (11): 1875–85. doi:10.1242/dev.047167. PMID 20431123.
- ^ Hirata T, Nakazawa M, Muraoka O, Nakayama R, Suda Y, Hibi M (October 2006). "Zinc-finger genes Fez and Fez-like function in the establishment of diencephalon subdivisions". Development. 133 (20): 3993–4004. doi:10.1242/dev.02585. PMID 16971467.
- ^ a b Kotan LD, Hutchins BI, Ozkan Y, Demirel F, Stoner H, Cheng PJ, Esen I, Gurbuz F, Bicakci YK, Mengen E, Yuksel B, Wray S, Topaloglu AK (September 2014). "Mutations in FEZF1 cause Kallmann syndrome". American Journal of Human Genetics. 95 (3): 326–31. doi:10.1016/j.ajhg.2014.08.006. PMC 4157145. PMID 25192046.
Further reading
[edit]- Song IS, Oh NS, Kim HT, Ha GH, Jeong SY, Kim JM, Kim DI, Yoo HS, Kim CH, Kim NS (April 2009). "Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene". Cancer Research. 69 (7): 3131–9. doi:10.1158/0008-5472.CAN-08-2240. PMID 19318583.
- Ulrich M, Seeber S, Becker CM, Enz R (January 2007). "Tax1-binding protein 1 is expressed in the retina and interacts with the GABA(C) receptor rho1 subunit". The Biochemical Journal. 401 (2): 429–36. doi:10.1042/BJ20061036. PMC 1820818. PMID 16999686.
- Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP (September 2010). "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility". Molecular Psychiatry. 15 (9): 954–68. doi:10.1038/mp.2009.34. PMC 2934739. PMID 19401682.
- Song IS, Ha GH, Kim JM, Jeong SY, Lee HC, Kim YS, Kim YJ, Kwon TK, Kim NS (November 2011). "Human ZNF312b oncogene is regulated by Sp1 binding to its promoter region through DNA demethylation and histone acetylation in gastric cancer". International Journal of Cancer. 129 (9): 2124–33. doi:10.1002/ijc.25871. PMID 21170990. S2CID 33834933.
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