TWIST2
Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene.[5][6][7] The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.[7]
Clinical significance
Mutations in the TWIST2 gene that alter DNA-binding activity through both dominant-negative and gain-of-function effects are associated with ablepharon macrostomia syndrome and Barber–Say syndrome.[9]
References
- ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608, ENSG00000288335 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000007805 - 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.
- Li L, Cserjesi P, Olson EN (Dec 1995). "Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis". Dev Biol. 172 (1): 280–92. doi:10.1006/dbio.1995.0023. PMID 7589808.
- Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM (Apr 1997). "The locations of the H-twist and H-dermo-1 genes are distinct on the human genome". Biochim Biophys Acta. 1360 (1): 1–2. doi:10.1016/s0925-4439(96)00071-3. PMID 9061034.
- "Entrez Gene: TWIST2 twist homolog 2 (Drosophila)".
- Lee, Yun Sok; Lee Hyoung Ho; Park Jiyoung; Yoo Eung Jae; Glackin Carlotta A; Choi Young Il; Jeon Sung Ho; Seong Rho Hyun; Park Sang Dai; Kim Jae Bum (Dec 2003). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c". Nucleic Acids Res. England. 31 (24): 7165–74. doi:10.1093/nar/gkg934. PMC 291873. PMID 14654692.
- Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara (2015-07-02). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". The American Journal of Human Genetics. 97 (1): 99–110. doi:10.1016/j.ajhg.2015.05.017. ISSN 0002-9297. PMC 4572501. PMID 26119818.
Further reading
- Volorio S, Simon G, Repetto M, et al. (1999). "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein". DNA Seq. 9 (5–6): 307–15. doi:10.3109/10425179809008469. PMID 10524757.
- Lee MS, Lowe G, Flanagan S, et al. (2000). "Human Dermo-1 has attributes similar to twist in early bone development". Bone. 27 (5): 591–602. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344.
- Gong XQ, Li L (2002). "Dermo-1, a multifunctional basic helix-loop-helix protein, represses MyoD transactivation via the HLH domain, MEF2 interaction, and chromatin deacetylation". J. Biol. Chem. 277 (14): 12310–7. doi:10.1074/jbc.M110228200. PMID 11809751.
- 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.
- Lee YS, Lee HH, Park J, et al. (2004). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c". Nucleic Acids Res. 31 (24): 7165–74. doi:10.1093/nar/gkg934. PMC 291873. PMID 14654692.
- 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 Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Firulli BA, Krawchuk D, Centonze VE, et al. (2005). "Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities". Nat. Genet. 37 (4): 373–81. doi:10.1038/ng1525. PMC 2568820. PMID 15735646.
- Raval A, Lucas DM, Matkovic JJ, et al. (2005). "TWIST2 demonstrates differential methylation in immunoglobulin variable heavy chain mutated and unmutated chronic lymphocytic leukemia". J. Clin. Oncol. 23 (17): 3877–85. doi:10.1200/JCO.2005.02.196. PMID 15809452.
- Terauchi M, Kajiyama H, Yamashita M, et al. (2007). "Possible involvement of TWIST in enhanced peritoneal metastasis of epithelial ovarian carcinoma". Clin. Exp. Metastasis. 24 (5): 329–39. doi:10.1007/s10585-007-9070-1. PMID 17487558. S2CID 24243743.
External links
- TWIST2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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