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TCOF1

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TCOF1
Identifiers
AliasesTCOF1, MFD1, TCS, TCS1, treacle, treacle ribosome biogenesis factor 1
External IDsOMIM: 606847; MGI: 892003; HomoloGene: 68049; GeneCards: TCOF1; OMA:TCOF1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

6949

21453

Ensembl

ENSG00000070814

ENSMUSG00000024613

UniProt

Q13428

O08784

RefSeq (mRNA)

NM_001198984
NM_011552

RefSeq (protein)

NP_001185913
NP_035682

Location (UCSC)Chr 5: 150.36 – 150.4 MbChr 18: 60.95 – 60.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Treacle Ribosome Biogenesis Factor 1 (TCOF1) also known as Treacle is a protein that in humans is encoded by the TCOF1 gene.[5][6] TCOF1 encodes a nucleolar protein with an LIS1 homology domain.[7] The treacle protein is involved in rRNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date.[6]

Gene

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The TCOF1 gene is located on the long (q) arm of chromosome 5 between positions 32 and 33.1, from base pair 150,357,629 to base pair 150,400,308.[8]

Function

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TCOF1 is involved in the production of a molecule called ribosomal RNA (rRNA) within cells.[7] TCOF1 is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced.[9] As a major component of cell structures called ribosomes, rRNA is essential for the assembly of proteins.[10] This protein is active during early embryonic development in structures that become bones and other tissues in the face.[11] Although the precise function of this protein is unknown, researchers believe that it plays a critical role in the development of facial bones and related structures.[12]

Aside from its interaction with UBF, treacle has been implicated in the methylation of the precursor to mature ribosomal RNA by interaction with the nucleolar protein pNop56.[13]

Clinical significance

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More than 120 mutations in the TCOF1 gene have been identified in people with Treacher Collins syndrome. Most of these mutations insert or delete a small number of DNA building blocks (base pairs) in the TCOF1 gene. TCOF1 mutations lead to the production of an abnormally small, nonfunctional version of treacle or prevent the cell from producing this protein. Researchers speculate that a loss of treacle reduces the production of rRNA in parts of the embryo that develop into facial bones and tissues. It is not known how loss of the treacle protein causes the specific problems with facial development found in Treacher Collins syndrome. For instance, mutations in the TCOF gene of these individuals often result in a cleft palate.[14]

Model organisms

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Mutations in this gene in Jindo dogs have been associated to the observed cranial differences between Jindo and boxer dogs.[15]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000070814 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024613 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL (September 1991). "Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3". Genomics. 11 (1): 193–198. doi:10.1016/0888-7543(91)90118-X. PMID 1765376.
  6. ^ a b "Entrez Gene: TCOF1 Treacher Collins-Franceschetti syndrome 1".
  7. ^ a b Valdez BC, Henning D, So RB, Dixon J, Dixon MJ (July 2004). "The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor". Proceedings of the National Academy of Sciences of the United States of America. 101 (29): 10709–10714. Bibcode:2004PNAS..10110709V. doi:10.1073/pnas.0402492101. PMC 489999. PMID 15249688.
  8. ^ "Chromosome 5: 150,357,629-150,400,308 - Region in detail - Homo_sapiens - Ensembl genome browser 113". asia.ensembl.org. Retrieved 2025-02-26.
  9. ^ Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, et al. (April 1997). "TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region". Proceedings of the National Academy of Sciences of the United States of America. 94 (7): 3110–3115. doi:10.1073/pnas.94.7.3110. PMC 20330. PMID 9096354.
  10. ^ "Ribosomes, Transcription, Translation | Learn Science at Scitable". www.nature.com. Retrieved 2025-02-25.
  11. ^ "TCOF1 gene: MedlinePlus Genetics". medlineplus.gov. Retrieved 2025-02-25.
  12. ^ Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, et al. (September 2006). "Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities". Proceedings of the National Academy of Sciences of the United States of America. 103 (36): 13403–13408. doi:10.1073/pnas.0603730103. PMC 1557391. PMID 16938878.
  13. ^ Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC (July 2005). "The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation". Human Molecular Genetics. 14 (14): 2035–2043. doi:10.1093/hmg/ddi208. PMID 15930015.
  14. ^ Dixon MJ, Marazita ML, Beaty TH, Murray JC (March 2011). "Cleft lip and palate: understanding genetic and environmental influences". Nature Reviews. Genetics. 12 (3): 167–78. doi:10.1038/nrg2933. PMC 3086810. PMID 21331089.
  15. ^ Kim RN, Kim DS, Choi SH, Yoon BH, Kang A, Nam SH, et al. (June 2012). "Genome analysis of the domestic dog (Korean Jindo) by massively parallel sequencing". DNA Research. 19 (3): 275–287. doi:10.1093/dnares/dss011. PMC 3372376. PMID 22474061.

Further reading

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