Protein-coding gene in the species Homo sapiens
Transcription initiation factor TFIID subunit 8 is a protein that in humans is encoded by the TAF8 gene .[5]
This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID . TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.[5]
Clinical significance Mutations of the TAF8 gene cause a neurodegenerative disorder first described in 2022[6] microcephaly , growth retardation , spasticity and epilepsy .
References
^ a b c GRCh38: Ensembl release 89: ENSG00000137413 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023980 – 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 .^ a b "Entrez Gene: TBN taube nuss homolog (mouse)" .^ Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P (June 2022). "Mutations in TAF8 cause a neurodegenerative disorder" . Brain: A Journal of Neurology . 145 (9): 3022–3034. doi :10.1093/brain/awac154 PMID 35759269 .
Further reading
Zhou Q, Sharp PA (1995). "Novel mechanism and factor for regulation by HIV-1 Tat" . EMBO J . 14 (2): 321–8. doi :10.1002/j.1460-2075.1995.tb07006.x . PMC 398086 PMID 7835343 . Parada CA, Yoon JB, Roeder RG (1995). "A novel LBP-1-mediated restriction of HIV-1 transcription at the level of elongation in vitro" . J. Biol. Chem . 270 (5): 2274–83. doi :10.1074/jbc.270.5.2274 PMID 7836461 . Ou SH, Garcia-Martínez LF, Paulssen EJ, Gaynor RB (1994). "Role of flanking E box motifs in human immunodeficiency virus type 1 TATA element function" . J. Virol . 68 (11): 7188–99. doi :10.1128/JVI.68.11.7188-7199.1994 . PMC 237158 PMID 7933101 . Kashanchi F, Piras G, Radonovich MF, et al. (1994). "Direct interaction of human TFIID with the HIV-1 transactivator tat". Nature . 367 (6460): 295–9. Bibcode :1994Natur.367..295K . doi :10.1038/367295a0 . PMID 8121496 . S2CID 4362048 . Wang Z, Morris GF, Rice AP, et al. (1996). "Wild-type and transactivation-defective mutants of human immunodeficiency virus type 1 Tat protein bind human TATA-binding protein in vitro" . J. Acquir. Immune Defic. Syndr. Hum. Retrovirol . 12 (2): 128–38. doi :10.1097/00042560-199606010-00005 PMID 8680883 . Pendergrast PS, Morrison D, Tansey WP, Hernandez N (1996). "Mutations in the carboxy-terminal domain of TBP affect the synthesis of human immunodeficiency virus type 1 full-length and short transcripts similarly" . J. Virol . 70 (8): 5025–34. doi :10.1128/JVI.70.8.5025-5034.1996 . PMC 190456 PMID 8764009 . Kashanchi F, Khleif SN, Duvall JF, et al. (1996). "Interaction of human immunodeficiency virus type 1 Tat with a unique site of TFIID inhibits negative cofactor Dr1 and stabilizes the TFIID-TFIIA complex" . J. Virol . 70 (8): 5503–10. doi :10.1128/JVI.70.8.5503-5510.1996 . PMC 190508 PMID 8764062 . Zhou Q, Sharp PA (1996). "Tat-SF1: cofactor for stimulation of transcriptional elongation by HIV-1 Tat". Science . 274 (5287): 605–10. Bibcode :1996Sci...274..605Z . doi :10.1126/science.274.5287.605 . PMID 8849451 . S2CID 13266489 . García-Martínez LF, Ivanov D, Gaynor RB (1997). "Association of Tat with purified HIV-1 and HIV-2 transcription preinitiation complexes" . J. Biol. Chem . 272 (11): 6951–8. doi :10.1074/jbc.272.11.6951 PMID 9054383 . Purrello M, Di Pietro C, Viola A, et al. (1998). "Genomics and transcription analysis of human TFIID" . Oncogene . 16 (12): 1633–8. doi :10.1038/sj.onc.1201673 PMID 9569032 . Guermah M, Tao Y, Roeder RG (2001). "Positive and Negative TAFII Functions That Suggest a Dynamic TFIID Structure and Elicit Synergy with TRAPs in Activator-Induced Transcription" . Mol. Cell. Biol . 21 (20): 6882–94. doi :10.1128/MCB.21.20.6882-6894.2001 . PMC 99865 PMID 11564872 . Tora L (2002). "A unified nomenclature for TATA box binding protein (TBP)-associated factors (TAFs) involved in RNA polymerase II transcription" . Genes Dev . 16 (6): 673–5. doi :10.1101/gad.976402 PMID 11963920 . 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" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Guermah M, Ge K, Chiang CM, Roeder RG (2003). "The TBN protein, which is essential for early embryonic mouse development, is an inducible TAFII implicated in adipogenesis" . Mol. Cell . 12 (4): 991–1001. doi :10.1016/S1097-2765(03)00396-4 PMID 14580349 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Soutoglou E, Demény MA, Scheer E, et al. (2005). "The Nuclear Import of TAF10 Is Regulated by One of Its Three Histone Fold Domain-Containing Interaction Partners" . Mol. Cell. Biol . 25 (10): 4092–104. doi :10.1128/MCB.25.10.4092-4104.2005 . PMC 1087738 PMID 15870280 .
