Twist transcription factor

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Twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)
Identifiers
Symbol(s) TWIST1; ACS3; BPES2; BPES3; SCS; TWIST
External IDs OMIM: 601622 MGI: 98872 HomoloGene: 402
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 7291 22160
Ensembl ENSG00000122691 ENSMUSG00000035799
Uniprot Q15672 P26687
Refseq NM_000474 (mRNA)
NP_000465 (protein)		 NM_011658 (mRNA)
NP_035788 (protein)
Location Chr 7: 19.12 - 19.12 Mb Chr 12: 34.54 - 34.55 Mb
Pubmed search [1] [2]

Twist transcription factor is a basic-helix-loop-helix transcription factor associated with Saethre-Chotzen syndrome.

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome.[1]

[edit] References

  1. ^ Entrez Gene: TWIST1 twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila).

[edit] Further reading

  • Seto ML, Lee SJ, Sze RW, Cunningham ML (2002). "Another TWIST on Baller-Gerold syndrome.". Am. J. Med. Genet. 104 (4): 323–30. PMID 11754069. 
  • Brueton LA, van Herwerden L, Chotai KA, Winter RM (1992). "The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.". J. Med. Genet. 29 (10): 681–5. PMID 1433226. 
  • Bianchi DW, Cirillo-Silengo M, Luzzatti L, Greenstein RM (1982). "Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.". Clin. Genet. 19 (6): 456–61. PMID 7296937. 
  • Rose CS, King AA, Summers D, et al. (1995). "Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.". Hum. Mol. Genet. 3 (8): 1405–8. PMID 7987323. 
  • Maw M, Kar B, Biswas J, et al. (1997). "Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.". Hum. Mol. Genet. 5 (12): 2049–54. PMID 8968762. 
  • Howard TD, Paznekas WA, Green ED, et al. (1997). "Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.". Nat. Genet. 15 (1): 36–41. doi:10.1038/ng0197-36. PMID 8988166. 
  • el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, et al. (1997). "Mutations of the TWIST gene in the Saethre-Chotzen syndrome.". Nat. Genet. 15 (1): 42–6. doi:10.1038/ng0197-42. PMID 8988167. 
  • Bourgeois P, Stoetzel C, Bolcato-Bellemin AL, et al. (1997). "The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.". Mamm. Genome 7 (12): 915–7. PMID 8995765. 
  • Wang SM, Coljee VW, Pignolo RJ, et al. (1997). "Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues.". Gene 187 (1): 83–92. PMID 9073070. 
  • Krebs I, Weis I, Hudler M, et al. (1997). "Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.". Hum. Mol. Genet. 6 (7): 1079–86. PMID 9215678. 
  • Rose CS, Patel P, Reardon W, et al. (1997). "The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases.". Hum. Mol. Genet. 6 (8): 1369–73. PMID 9259286. 
  • Hamamori Y, Wu HY, Sartorelli V, Kedes L (1997). "The basic domain of myogenic basic helix-loop-helix (bHLH) proteins is the novel target for direct inhibition by another bHLH protein, Twist.". Mol. Cell. Biol. 17 (11): 6563–73. PMID 9343420. 
  • Gripp KW, Stolle CA, Celle L, et al. (1999). "TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.". Am. J. Med. Genet. 82 (2): 170–6. PMID 9934984. 
  • Hamamori Y, Sartorelli V, Ogryzko V, et al. (1999). "Regulation of histone acetyltransferases p300 and PCAF by the bHLH protein twist and adenoviral oncoprotein E1A.". Cell 96 (3): 405–13. PMID 10025406. 
  • Kunz J, Hudler M, Fritz B (1999). "Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.". J. Med. Genet. 36 (8): 650–2. PMID 10465122. 
  • Maestro R, Dei Tos AP, Hamamori Y, et al. (1999). "Twist is a potential oncogene that inhibits apoptosis.". Genes Dev. 13 (17): 2207–17. PMID 10485844. 
  • El Ghouzzi V, Legeai-Mallet L, Aresta S, et al. (2000). "Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.". Hum. Mol. Genet. 9 (5): 813–9. PMID 10749989. 
  • 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. PMID 11062344. 
  • Dollfus H, Kumaramanickavel G, Biswas P, et al. (2001). "Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.". J. Med. Genet. 38 (7): 470–2. PMID 11474656. 
  • Elanko N, Sibbring JS, Metcalfe KA, et al. (2002). "A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.". Hum. Mutat. 18 (6): 535–41. doi:10.1002/humu.1230. PMID 11748846. 

[edit] External links

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v • d • e
Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1
(1.2) Basic helix-loop-helix (bHLH)
ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1
(1.3) bHLH-ZIP
MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger
DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)
(2.2) Other Cys4
GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)
(2.3) Cys2His2
ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)
(2.4) Cys6
(2.5) Alternating composition
AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B
(3) Helix-turn-helix
domains
ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1
(3.2) Paired box
PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)
E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)
HSF (1, 2, 4)
(3.5) Tryptophan clusters
ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2
(3.6) TEA domain
transcriptional enhancer factor 1, 2
(4) β-Scaffold factors with
minor groove contacts
(4.1) Rel homology region
NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)
(4.2) STAT
STAT (1, 2, 3, 4, 5, 6)
(4.3) p53
(4.4) MADS box
Mef2 (A, B, C, D) • SRF
HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1
(4.10) Cold-shock domain
(4.11) Runt
(0) Other
transcription factors
(0.2) HMGI(Y)
HMGA (1, 2) • HBP1
Rb • RBL1 • RBL2
(0.5) AP-2/EREBP-related factors
Apetala 2 • EREBP • B3
(0.6) Miscellaneous
ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD