histone deacetylase 8
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L HDAC8 gene provides instructions for making an enzyme called histone deacetylase 8. This enzyme is involved in regulating the structure and organisation of chromosomes during cell division.
Normal function
L HDAC8 gene provides instructions for making an enzyme called histone deacetylase 8. This enzyme is involved in regulating the structure and organisation of chromosomes during cell division.
Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures called sister chromatids. Sister chromatids are attached to one another during the early stages of cell division by a group of proteins called the cohesin complex. Later in cell division, the cohesin complex must be removed so the sister chromatids can separate, allowing one from each pair to move into each newly forming cell. Histone deacetylase 8 carries out a chemical reaction that helps remove the cohesin complex so it can be recycled for future cell divisions.
Researchers believe that histone deacetylase 8, as a regulator of the cohesin complex, also plays important roles in stabilizing cells' genetic information, repairing damaged DNA, and controlling the activity of certain genes that are essential for normal development.
Conditions referring to this gene or chromosome
Altri nomi
CDA07
CDLS5
HD8
HDACL1
histone deacetylase-like 1
MRXS6
RPD3
WTS
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Ulteriori letture e riferimenti
- histone deacetylase 8; MedlinePlus, National Library of Medicine.
- Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep 13;489(7415):313-7. doi: 10.1038/nature11316.
- Decroos C, Bowman CM, Moser JA, Christianson KE, Deardorff MA, Christianson DW. Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. ACS Chem Biol. 2014 Sep 19;9(9):2157-64. doi: 10.1021/cb5003762. Epub 2014 Jul 30.
- Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.
- Kaiser FJ, Ansari M, Braunholz D, Concepcion Gil-Rodriguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillen-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Perez-Aytes A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pie J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
- Mordaunt DA, McLauchlan A. HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity. Clin Genet. 2015 Jul;88(1):98. doi: 10.1111/cge.12588. Epub 2015 Apr 10. No abstract available.
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