Tubulin beta-4A chain: Difference between revisions
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An R2G substitution in the autoregulatory MREI domain of TUBB4A has been identified as the cause of 'hereditary whispering [[dysphonia]]' or DYT4.<ref name="pmid23424103">{{cite journal |vauthors=Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H | title = Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia | journal = Annals of Neurology | volume = 73| issue = | pages = 546–553|date=December 2012 | pmid = 23424103 | doi = 10.1002/ana.23832 | pmc=3698699}}</ref><ref name="OMIM">{{OMIM|128101|Dystonia 4, torsion, autosomal dominant; DYT4}}</ref> | An R2G substitution in the autoregulatory MREI domain of TUBB4A has been identified as the cause of 'hereditary whispering [[dysphonia]]' or DYT4.<ref name="pmid23424103">{{cite journal |vauthors=Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H | title = Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia | journal = Annals of Neurology | volume = 73| issue = | pages = 546–553|date=December 2012 | pmid = 23424103 | doi = 10.1002/ana.23832 | pmc=3698699}}</ref><ref name="OMIM">{{OMIM|128101|Dystonia 4, torsion, autosomal dominant; DYT4}}</ref> | ||
A ''de novo'' D249N [[mutation]] has been identified as the cause of a rare [[leukoencephalopathy]], | A ''de novo'' D249N [[mutation]] has been identified as the cause of a rare [[leukoencephalopathy]], [[hypomyelination with atrophy of basal ganglia and cerebellum]] ([[H-ABC]]).<ref name="pmid23582646">{{cite journal |vauthors=Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A | title = A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum | journal = American Journal of Human Genetics | volume = 92 | issue = 5 | pages = 767–773 |date=May 2013 | pmid = 23582646 | doi = 10.1016/j.ajhg.2013.03.018 | pmc=3644625}}</ref><ref name="OMIM2">{{OMIM|128101|Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum; HABC}}</ref> | ||
Mutations in TUBB4A are associated | Mutations in TUBB4A are associated with {{SWL|type=mutations_associated_to|target=Pelizaeus–Merzbacher disease|label=Pelizaeus–Merzbacher disease}}.<ref>{{Cite journal | ||
| pmid = 24974158 | | pmid = 24974158 | ||
| year = 2014 | | year = 2014 | ||
Latest revision as of 14:46, 13 January 2019
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Tubulin beta-4A chain is a protein that in humans is encoded by the TUBB4A gene. Two tubulin beta-4 chain proteins are encoded in the human genome by the genes TUBB4A (this entry) and TUBB4B.[1][2][3] Tubulin is the major constituent of microtubules, a key components of the cytoskeleton. It binds two moles of GTP, one at an exchangeable site on the beta-chain and one at a non-exchangeable site on the alpha-chain. TUBB4A is preferentially and highly expressed in the central nervous system.[4]
Clinical significance
Mutations in TUBB4A have been associated with two neurological disorders.
An R2G substitution in the autoregulatory MREI domain of TUBB4A has been identified as the cause of 'hereditary whispering dysphonia' or DYT4.[5][6]
A de novo D249N mutation has been identified as the cause of a rare leukoencephalopathy, hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).[7][8]
Mutations in TUBB4A are associated with Pelizaeus–Merzbacher disease .[9]
References
- ↑ Hall JL, Dudley L, Dobner PR, Lewis SA, Cowan NJ (Aug 1983). "Identification of two human beta-tubulin isotypes". Molecular and Cellular Biology. 3 (5): 854–862. doi:10.1128/mcb.3.5.854. PMC 368608. PMID 6865944.
- ↑ Lee MG, Loomis C, Cowan NJ (Sep 1984). "Sequence of an expressed human beta-tubulin gene containing ten Alu family members". Nucleic Acids Research. 12 (14): 5823–5836. doi:10.1093/nar/12.14.5823. PMC 320034. PMID 6462917.
- ↑ "Entrez Gene: TUBB4 tubulin, beta 4".
- ↑ "UCSC Genome Browser: TUBB4A microarray expression".
- ↑ Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H (December 2012). "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia". Annals of Neurology. 73: 546–553. doi:10.1002/ana.23832. PMC 3698699. PMID 23424103.
- ↑ Online Mendelian Inheritance in Man (OMIM) Dystonia 4, torsion, autosomal dominant; DYT4 -128101
- ↑ Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A (May 2013). "A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum". American Journal of Human Genetics. 92 (5): 767–773. doi:10.1016/j.ajhg.2013.03.018. PMC 3644625. PMID 23582646.
- ↑ Online Mendelian Inheritance in Man (OMIM) Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum; HABC -128101
- ↑ Shimojima, K; Okumura, A; Ikeno, M; Nishimura, A; Saito, A; Saitsu, H; Matsumoto, N; Yamamoto, T (2014). "A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease". Brain & Development. 37: 281–285. doi:10.1016/j.braindev.2014.05.004. PMID 24974158.
Further reading
- Wang D, Villasante A, Lewis SA, Cowan NJ (1987). "The mammalian beta-tubulin repertoire: hematopoietic expression of a novel, heterologous beta-tubulin isotype". Journal of Cell Biology. 103 (5): 1903–1910. doi:10.1083/jcb.103.5.1903. PMC 2114403. PMID 3782288.
- Baumann MH, Wisniewski T, Levy E, et al. (1996). "C-terminal fragments of alpha- and beta-tubulin form amyloid fibrils in vitro and associate with amyloid deposits of familial cerebral amyloid angiopathy, British type". Biochem. Biophys. Res. Commun. 219 (1): 238–242. doi:10.1006/bbrc.1996.0211. PMID 8619814.
- Watts NR, Sackett DL, Ward RD, et al. (2000). "HIV-1 rev depolymerizes microtubules to form stable bilayered rings". Journal of Cell Biology. 150 (2): 349–360. doi:10.1083/jcb.150.2.349. PMC 2180222. PMID 10908577.
- Tarazona R, López-Lluch G, Galiani MD, et al. (2001). "HLA-B2702 (77-83/83-77) peptide binds to beta-tubulin on human NK cells and blocks their cytotoxic capacity". Journal of Immunology. 165 (12): 6776–6782. doi:10.4049/jimmunol.165.12.6776. PMID 11120798.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Chen D, Wang M, Zhou S, Zhou Q (2004). "HIV-1 Tat targets microtubules to induce apoptosis, a process promoted by the pro-apoptotic Bcl-2 relative Bim". EMBO Journal. 21 (24): 6801–6810. doi:10.1093/emboj/cdf683. PMC 139103. PMID 12486001.
- Zhang C, Dowd DR, Staal A, et al. (2003). "Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing". Journal of Biological Chemistry. 278 (37): 35325–35336. doi:10.1074/jbc.M305191200. PMID 12840015.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
- Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216.
- Villacé P, Marión RM, Ortín J (2004). "The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs". Nucleic Acids Research. 32 (8): 2411–2420. doi:10.1093/nar/gkh552. PMC 419443. PMID 15121898.
- Hassel S, Eichner A, Yakymovych M, et al. (2004). "Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry". Proteomics. 4 (5): 1346–1358. doi:10.1002/pmic.200300770. PMID 15188402.
- Jin J, Smith FD, Stark C, et al. (2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Curr. Biol. 14 (16): 1436–1450. doi:10.1016/j.cub.2004.07.051. PMID 15324660.
- Campbell GR, Pasquier E, Watkins J, et al. (2005). "The glutamine-rich region of the HIV-1 Tat protein is involved in T-cell apoptosis". Journal of Biological Chemistry. 279 (46): 48197–48204. doi:10.1074/jbc.M406195200. PMID 15331610.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Research. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- de Mareuil J, Carre M, Barbier P, et al. (2006). "HIV-1 Tat protein enhances microtubule polymerization". Retrovirology. 2: 5. doi:10.1186/1742-4690-2-5. PMC 549075. PMID 15691386.
- Giacca M (2006). "HIV-1 Tat, apoptosis and the mitochondria: a tubulin link?". Retrovirology. 2: 7. doi:10.1186/1742-4690-2-7. PMC 549042. PMID 15698476.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–126. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Coiras M, Camafeita E, Ureña T, et al. (2006). "Modifications in the human T cell proteome induced by intracellular HIV-1 Tat protein expression". Proteomics. 6 Suppl 1: S63–7S3. doi:10.1002/pmic.200500437. PMID 16526095.
External links
- TUBB4A human gene location in the UCSC Genome Browser.
- TUBB4A human gene details in the UCSC Genome Browser.
 | This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it. |