Encyclopedia
Treacle ribosome biogenesis factor 1: The TCOF1 gene provides instructions for making a protein called treacle.
- genes
1. Normal Function
The TCOF1 gene provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues of the face, and it appears to play a critical role in the formation of these structures.
Studies suggest that treacle is involved in the production of a molecule called ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA helps assemble protein building blocks (amino acids) into functioning proteins, which is essential for the normal functioning and survival of cells. Treacle is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced.
2. Health Conditions Related to Genetic Changes
3. Treacher Collins syndrome
About 200 mutations in the TCOF1 gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face. Most of these mutations insert or delete a small number of DNA building blocks (base pairs) in the TCOF1 gene, which leads to a reduction in the amount of functional treacle in cells. As a result, the production of rRNA is reduced, which likely triggers the self-destruction (apoptosis) of certain cells involved in the early development of facial bones and tissues. Researchers believe that this abnormal cell death may lead to the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of a reduction in rRNA are limited to facial development.
Coloboma
3. Other Names for This Gene
- TCOF_HUMAN
- TCS
- Treacher Collins syndrome protein
- Treacher Collins-Franceschetti syndrome 1
- treacle
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/tcof1
References
- Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novelmutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet. 2011 Sep 27;12:125. doi: 10.1186/1471-2350-12-125.
- Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ,Trainor PA. Tcof1/Treacle is required for neural crest cell formation andproliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13403-8.
- Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC. The TreacherCollins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. HumMol Genet. 2005 Jul 15;14(14):2035-43.
- Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y. Mutational analysis of the TCOF1 gene in 11 Japanese patients withTreacher Collins Syndrome and mechanism of mutagenesis. Am J Med Genet A. 2005May 1;134(4):363-7.
- Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [updated 2020 Aug20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1532/
- Marszałek B, Wójcicki P, Kobus K, Trzeciak WH. Clinical features, treatmentand genetic background of Treacher Collins syndrome. J Appl Genet.2002;43(2):223-33. Review.
- Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role ofTcof1/treacle. Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. doi:10.1016/j.biocel.2008.10.026.
- Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. TCOF1mutation database: novel mutation in the alternatively spliced exon 6A and updatein mutation nomenclature. Hum Mutat. 2005 May;25(5):429-34.
- Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A,Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutationdetection rate in TCOF1 among Treacher Collins syndrome patients revealsclustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000Oct;16(4):315-22. Review.
- Valdez BC, Henning D, So RB, Dixon J, Dixon MJ. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription byinteracting with upstream binding factor. Proc Natl Acad Sci U S A. 2004 Jul20;101(29):10709-14.
