Treacle protein
 | This articlemay beconfusing or unclearto readers.In particular, are TCOF1 and Treacle protein one-and-the-same? Is the protein a component of the gene?.(May 2024) |
| TCOF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | TCOF1,MFD1, TCS, TCS1, treacle, treacle ribosome biogenesis factor 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM:606847;MGI:892003;HomoloGene:68049;GeneCards:TCOF1;OMA:TCOF1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Treacle proteinis aproteinthat studies suggest is involved in the production of a molecule calledribosomal RNA(rRNA) within cells. Treacle is active in thenucleolus,which is a small region inside thenucleuswhere rRNA is produced. As a major component of cell structures calledribosomes,rRNA is essential for the assembly of proteins. This protein is active during early embryonic development in structures that becomebonesand other tissues in the face. 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.
In humans, the treacle protein is encoded by theTCOF1(treacle ribosome biogenesis factor 1)gene.[5][6]TCOF1 encodes nucleolar proteins with an LIS1 homology domain.[7]The treacle protein is involved in rRNA gene transcription through its interaction withupstream binding factor(UBF). Mutations in this gene have been associated withTreacher 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]
Aside from its interaction with UBF, treacle has been implicated in themethylationof the precursor to mature ribosomal RNA by interaction with the nucleolar protein pNop56.[8]
The TCOF1 gene is located on the long (q) arm ofchromosome 5between positions 32 and 33.1, frombase pair149,717,427 to base pair 149,760,047.
Related diseases
[edit]More than 120mutationsin the TCOF gene have been identified in people withTreacher Collins syndrome.Most of these mutations insert or delete a small number ofDNAbuilding 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 theembryothat 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 acleft palate.[9]
Model organisms
[edit]Mutations in this gene inJindodogs have been associated to the observed cranial differences between Jindo andboxerdogs.[10]
References
[edit]- ^abcGRCh38: Ensembl release 89: ENSG00000070814–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000024613–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.
- ^Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL (Feb 1992)."Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3".Genomics.11(1): 193–8.doi:10.1016/0888-7543(91)90118-X.PMID1765376.
- ^ab"Entrez Gene: TCOF1 Treacher Collins-Franceschetti syndrome 1".
- ^Valdez BC, Henning D, So RB, Dixon J, Dixon MJ (2004)."The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor".Proc. Natl. Acad. Sci. U.S.A.101(29): 10709–14.Bibcode:2004PNAS..10110709V.doi:10.1073/pnas.0402492101.PMC489999.PMID15249688.
- ^Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC (2005)."The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation".Hum Mol Genet.14(14): 2035–43.doi:10.1093/hmg/ddi208.PMID15930015.
- ^Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011). "Cleft lip and palate: understanding genetic and environmental influences". Nature Reviews Genetics (12): 167-178.
- ^Kim RN, Kim DS, Choi SH, et al. (2012)."Genome analysis of the domestic dog (korean jindo) by massively parallel sequencing".DNA Res.19(3): 275–88.doi:10.1093/dnares/dss011.PMC3372376.PMID22474061.
Further reading
[edit]- Splendore A, Silva EO, Alonso LG, et al. (2000)."High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes".Hum. Mutat.16(4): 315–22.doi:10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H.PMID11013442.S2CID36109746.
- Dixon MJ, Dixon J, Raskova D, et al. (1993). "Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2".Hum. Mol. Genet.1(4): 249–53.doi:10.1093/hmg/1.4.249.PMID1303194.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".Gene.138(1–2): 171–4.doi:10.1016/0378-1119(94)90802-8.PMID8125298.
- Dixon MJ, Dixon J, Houseal T, et al. (1993)."Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1".Am. J. Hum. Genet.52(5): 907–14.PMC1682053.PMID8488840.
- Dixon, Jill; Edwards, Sara J.; Gladwin, Amanda J.; Dixon, Michael J.; Loftus, Stacie K.; Bonner, Cynthia A.; Koprivnikar, Kathryn; Wasmuth, John J. (1996). "Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group".Nat. Genet.12(2): 130–6.doi:10.1038/ng0296-130.PMID8563749.S2CID34312227.
- Bonaldo MF, Lennon G, Soares MB (1997)."Normalization and subtraction: two approaches to facilitate gene discovery".Genome Res.6(9): 791–806.doi:10.1101/gr.6.9.791.PMID8889548.
- Edwards SJ, Gladwin AJ, Dixon MJ (1997)."The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon".Am. J. Hum. Genet.60(3): 515–24.PMC1712503.PMID9042910.
- Dixon J, Edwards SJ, Anderson I, et al. (1997)."Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene".Genome Res.7(3): 223–34.doi:10.1101/gr.7.3.223.PMID9074926.
- Wise CA, Chiang LC, Paznekas WA, et al. (1997)."TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region".Proc. Natl. Acad. Sci. U.S.A.94(7): 3110–5.Bibcode:1997PNAS...94.3110W.doi:10.1073/pnas.94.7.3110.PMC20330.PMID9096354.
- Paznekas WA, Zhang N, Gridley T, Jabs EW (1997)."Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18".Biochem. Biophys. Res. Commun.238(1): 1–6.doi:10.1006/bbrc.1997.7229.PMID9299440.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".Gene.200(1–2): 149–56.doi:10.1016/S0378-1119(97)00411-3.PMID9373149.
- Marsh KL, Dixon J, Dixon MJ (1998)."Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle".Hum. Mol. Genet.7(11): 1795–800.doi:10.1093/hmg/7.11.1795.PMID9736782.
- Winokur ST, Shiang R (1998)."The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus".Hum. Mol. Genet.7(12): 1947–52.doi:10.1093/hmg/7.12.1947.PMID9811939.
- Jones NC, Farlie PG, Minichiello J, Newgreen DF (1999)."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".Hum. Mol. Genet.8(12): 2239–45.doi:10.1093/hmg/8.12.2239.PMID10545604.
- Isaac C, Marsh KL, Paznekas WA, et al. (2000)."Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome".Mol. Biol. Cell.11(9): 3061–71.doi:10.1091/mbc.11.9.3061.PMC14975.PMID10982400.
- Emes RD, Ponting CP (2002)."A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration".Hum. Mol. Genet.10(24): 2813–20.doi:10.1093/hmg/10.24.2813.PMID11734546.
- Splendore A, Jabs EW, Passos-Bueno MR (2002)."Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle".J. Med. Genet.39(7): 493–5.doi:10.1136/jmg.39.7.493.PMC1735178.PMID12114482.
- Ohta S, Shiomi Y, Sugimoto K, et al. (2002)."A proteomics approach to identify proliferating cell nuclear antigen (PCNA)-binding proteins in human cell lysates. Identification of the human CHL12/RFCs2-5 complex as a novel PCNA-binding protein".J. Biol. Chem.277(43): 40362–7.doi:10.1074/jbc.M206194200.PMID12171929.
External links
[edit]- GeneReviews/NCBI/NIH/UW entry on Treacher Collins Syndrome or Mandibulofacial Dysostosis
- GeneCard
- TCOF1+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
- TCOF1human gene location in theUCSC Genome Browser.
- TCOF1human gene details in theUCSC Genome Browser.