Treacle protein

Treacher Collins-Franceschetti syndrome 1, also known as TCOF1, is a human gene.cite web | title = Entrez Gene: TCOF1 Treacher Collins-Franceschetti syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6949| accessdate = ] PBB_Summary
section_title =
summary_text = This gene encodes a nucleolar protein with an LIS1 homology domain. The protein is involved in ribosomal DNA 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.cite web | title = Entrez Gene: TCOF1 Treacher Collins-Franceschetti syndrome 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6949| accessdate = ] TCOF1 is a gene that provides instructions for making a protein called treacle. [cite journal |author=Valdez BC, Henning D, So RB, Dixon J, Dixon MJ |title=The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue=29 |pages=10709–14 |year=2004 |pmid=15249688 |doi=10.1073/pnas.0402492101] This protein is active during early embryonic development in structures that become bones and 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.

Studies suggest that treacle is involved in the production of a molecule called ribosomal RNA (rRNA) within cells. Treacle is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced. As a major component of cell structures called ribosomes, rRNA is essential for the assembly of proteins.

The TCOF1 gene is located on the long (q) arm of chromosome 5 between positions 32 and 33.1, from base pair 149,717,427 to base pair 149,760,047.

Related diseases

More than 120 mutations in the TCOF 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 this protein causes the specific problems with facial development found in Treacher Collins syndrome.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Splendore A, Silva EO, Alonso LG, "et al." |title=High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. |journal=Hum. Mutat. |volume=16 |issue= 4 |pages= 315–22 |year= 2000 |pmid= 11013442 |doi= 10.1002/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H |doilabel=10.1002/1098-1004(200010)16:4315::AID-HUMU43.0.CO;2-H
*cite journal | author=Dixon MJ, Dixon J, Raskova D, "et al." |title=Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. |journal=Hum. Mol. Genet. |volume=1 |issue= 4 |pages= 249–53 |year= 1993 |pmid= 1303194 |doi=
*cite journal | author=Jabs EW, Li X, Coss CA, "et al." |title=Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. |journal=Genomics |volume=11 |issue= 1 |pages= 193–8 |year= 1992 |pmid= 1765376 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Dixon MJ, Dixon J, Houseal T, "et al." |title=Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. |journal=Am. J. Hum. Genet. |volume=52 |issue= 5 |pages= 907–14 |year= 1993 |pmid= 8488840 |doi=
*cite journal | author= |title=Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. |journal=Nat. Genet. |volume=12 |issue= 2 |pages= 130–6 |year= 1996 |pmid= 8563749 |doi= 10.1038/ng0296-130
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Edwards SJ, Gladwin AJ, Dixon MJ |title=The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. |journal=Am. J. Hum. Genet. |volume=60 |issue= 3 |pages= 515–24 |year= 1997 |pmid= 9042910 |doi=
*cite journal | author=Dixon J, Edwards SJ, Anderson I, "et al." |title=Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. |journal=Genome Res. |volume=7 |issue= 3 |pages= 223–34 |year= 1997 |pmid= 9074926 |doi=
*cite journal | author=Wise CA, Chiang LC, Paznekas WA, "et al." |title=TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 7 |pages= 3110–5 |year= 1997 |pmid= 9096354 |doi=
*cite journal | author=Paznekas WA, Zhang N, Gridley T, Jabs EW |title=Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. |journal=Biochem. Biophys. Res. Commun. |volume=238 |issue= 1 |pages= 1–6 |year= 1997 |pmid= 9299440 |doi= 10.1006/bbrc.1997.7229
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Marsh KL, Dixon J, Dixon MJ |title=Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. |journal=Hum. Mol. Genet. |volume=7 |issue= 11 |pages= 1795–800 |year= 1998 |pmid= 9736782 |doi=
*cite journal | author=Winokur ST, Shiang R |title=The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. |journal=Hum. Mol. Genet. |volume=7 |issue= 12 |pages= 1947–52 |year= 1998 |pmid= 9811939 |doi=
*cite journal | author=Jones NC, Farlie PG, Minichiello J, Newgreen DF |title=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. |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2239–45 |year= 1999 |pmid= 10545604 |doi=
*cite journal | author=Isaac C, Marsh KL, Paznekas WA, "et al." |title=Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. |journal=Mol. Biol. Cell |volume=11 |issue= 9 |pages= 3061–71 |year= 2000 |pmid= 10982400 |doi=
*cite journal | author=Emes RD, Ponting CP |title=A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. |journal=Hum. Mol. Genet. |volume=10 |issue= 24 |pages= 2813–20 |year= 2002 |pmid= 11734546 |doi=
*cite journal | author=Splendore A, Jabs EW, Passos-Bueno MR |title=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. |journal=J. Med. Genet. |volume=39 |issue= 7 |pages= 493–5 |year= 2002 |pmid= 12114482 |doi=
*cite journal | author=Ohta S, Shiomi Y, Sugimoto K, "et al." |title=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. |journal=J. Biol. Chem. |volume=277 |issue= 43 |pages= 40362–7 |year= 2002 |pmid= 12171929 |doi= 10.1074/jbc. M206194200

External links

* [http://www.genecards.org/cgi-bin/carddisp?TCOF1 GeneCard]
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