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Gene Review

TCOF1  -  Treacher Collins-Franceschetti syndrome 1

Homo sapiens

Synonyms: MFD1, TCS, TCS1, Treacher Collins syndrome protein, Treacle protein, ...
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Disease relevance of TCOF1


High impact information on TCOF1


Chemical compound and disease context of TCOF1


Biological context of TCOF1


Anatomical context of TCOF1

  • Antisense-mediated down-regulation of treacle expression in Xenopus laevis oocytes reduced 2'-O-methylation of pre-rRNA [12].
  • Furthermore, using tissue extracts we have demonstrated that in avian embryonic branchial arches I and II there is a kinase activity that can phosphorylate treacle peptides that is consistent with CKII site recognition [13].
  • However, treacle fails to colocalize with Nopp140 to Cajal (coiled) bodies [14].
  • We demonstrate however, that the cellular amount of treacle varies less than twofold among a collection of primary fibroblasts and lymphoblasts and regardless of whether the cells were derived from TCS patients or healthy individuals [14].
  • Haploinsufficiency of Tcof1 leads to a deficiency in migrating neural crest cells, which results in severe craniofacial malformations [6].

Associations of TCOF1 with chemical compounds

  • In the current investigation, a combination of cDNA library screening and rapid amplification of cDNA ends has permitted the isolation of the complete coding sequence of TCOF1, which is encoded by 26 exons and predicts a low complexity, serine/alanine-rich protein of approximately 144 kD [15].
  • To investigate the molecular pathogenesis of TCS, we replaced exon 1 of Tcof1 with a neomycin-resistance cassette via homologous recombination in embryonic stem cells [16].
  • Later administration of retinoic acid prematurely and excessively kills ganglionic placodal cells and leads to a malformation complex virtually identical to the Treacher Collins syndrome [17].
  • Ketamine for induction and intubation in Treacher-Collins syndrome [18].

Other interactions of TCOF1


Analytical, diagnostic and therapeutic context of TCOF1

  • Previous studies have localized the TCOF1 locus between D5S519 (proximal) and SPARC (distal), a region of 22 centirays as estimated by radiation hybrid mapping [24].
  • We report the isolation of the entire mouse Tcof1 coding sequence (3960 bp) by performing a computer-based search for mouse cDNA clones homologous to TCOF1 and generating overlapping RT-PCR products from mouse RNA [2].
  • Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1 [25].
  • Real-time PCR analysis showed different melting temperatures of the amplified fragment containing normal allele and that harboring the 18 bp deletion, thus providing a rapid screening assay for this and other deletions of the TCOF1 gene [26].
  • Site-directed mutagenesis has been used to recreate mutations observed in individuals with TCS [27].


  1. A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. Loftus, S.K., Edwards, S.J., Scherpbier-Heddema, T., Buetow, K.H., Wasmuth, J.J., Dixon, M.J. Hum. Mol. Genet. (1993) [Pubmed]
  2. Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Paznekas, W.A., Zhang, N., Gridley, T., Jabs, E.W. Biochem. Biophys. Res. Commun. (1997) [Pubmed]
  3. Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism. Bruni, L., Angeletti, B., Pascale, E., Tozzi, M.C., Giammaria, P., Verna, R., D'Ambrosio, E. Clin. Genet. (1996) [Pubmed]
  4. Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Dixon, M.J., Dixon, J., Houseal, T., Bhatt, M., Ward, D.C., Klinger, K., Landes, G.M. Am. J. Hum. Genet. (1993) [Pubmed]
  5. Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. Horiuchi, K., Ariga, T., Fujioka, H., Kawashima, K., Yamamoto, Y., Igawa, H., Sakiyama, Y., Sugihara, T. Am. J. Med. Genet. A (2004) [Pubmed]
  6. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Dixon, J., Jones, N.C., Sandell, L.L., Jayasinghe, S.M., Crane, J., Rey, J.P., Dixon, M.J., Trainor, P.A. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  7. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Valdez, B.C., Henning, D., So, R.B., Dixon, J., Dixon, M.J. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  8. Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Sulik, K.K., Johnston, M.C., Smiley, S.J., Speight, H.S., Jarvis, B.E. Am. J. Med. Genet. (1987) [Pubmed]
  9. Three-dimensional cranial surface reconstructions using high-resolution computed tomography. Vannier, M.W., Conroy, G.C., Marsh, J.L., Knapp, R.H. Am. J. Phys. Anthropol. (1985) [Pubmed]
  10. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Jabs, E.W., Li, X., Lovett, M., Yamaoka, L.H., Taylor, E., Speer, M.C., Coss, C., Cadle, R., Hall, B., Brown, K. Genomics (1993) [Pubmed]
  11. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M., Jabs, E.W. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  12. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Gonzales, B., Henning, D., So, R.B., Dixon, J., Dixon, M.J., Valdez, B.C. Hum. Mol. Genet. (2005) [Pubmed]
  13. Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. Jones, N.C., Farlie, P.G., Minichiello, J., Newgreen, D.F. Hum. Mol. Genet. (1999) [Pubmed]
  14. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Isaac, C., Marsh, K.L., Paznekas, W.A., Dixon, J., Dixon, M.J., Jabs, E.W., Meier, U.T. Mol. Biol. Cell (2000) [Pubmed]
  15. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Dixon, J., Edwards, S.J., Anderson, I., Brass, A., Scambler, P.J., Dixon, M.J. Genome Res. (1997) [Pubmed]
  16. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Dixon, J., Brakebusch, C., Fässler, R., Dixon, M.J. Hum. Mol. Genet. (2000) [Pubmed]
  17. Prenatal craniofacial development: new insights on normal and abnormal mechanisms. Johnston, M.C., Bronsky, P.T. Crit. Rev. Oral Biol. Med. (1995) [Pubmed]
  18. Ketamine for induction and intubation in Treacher-Collins syndrome. MacLennan, F.M., Robertson, G.S. Anaesthesia. (1981) [Pubmed]
  19. Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. Thiel, C.T., Rosanowski, F., Kohlhase, J., Reis, A., Rauch, A. Clin. Dysmorphol. (2005) [Pubmed]
  20. A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Emes, R.D., Ponting, C.P. Hum. Mol. Genet. (2001) [Pubmed]
  21. The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. Winokur, S.T., Shiang, R. Hum. Mol. Genet. (1998) [Pubmed]
  22. Construction of a yeast artificial chromosome contig encompassing the human acidic fibroblast growth factor (FGF1) gene: toward the cloning of the ANLL/MDS tumor-suppressor gene. Chiu, I.M., Gilmore, E.C., Liu, Y., Payson, R.A. Genomics (1994) [Pubmed]
  23. Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. Jabs, E.W., Li, X., Coss, C.A., Taylor, E.W., Meyers, D.A., Weber, J.L. Genomics (1991) [Pubmed]
  24. A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. Dixon, J., Gladwin, A.J., Loftus, S.K., Riley, J.H., Perveen, R., Wasmuth, J.J., Anand, R., Dixon, M.J. Am. J. Hum. Genet. (1994) [Pubmed]
  25. Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Dixon, J., Hovanes, K., Shiang, R., Dixon, M.J. Hum. Mol. Genet. (1997) [Pubmed]
  26. Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. Marszalek, B., Wisniewski, S.A., Wojcicki, P., Kobus, K., Trzeciak, W.H. Am. J. Med. Genet. A (2003) [Pubmed]
  27. Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. Marsh, K.L., Dixon, J., Dixon, M.J. Hum. Mol. Genet. (1998) [Pubmed]
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