Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product

Gene

Volumn 359, Issue 1-2, 2005, Pages 73-80

  Gonzales, Bianca ^a   Yang, Hushan ^a   Henning, Dale ^a   Valdez, Benigno C ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Craniofacial development; Nucleolus; Ribosomal RNA; Treacle

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; NUCLEAR PROTEIN; PHOSPHOPROTEIN; PROTEIN TREACLE; RIBOSOME DNA; UNCLASSIFIED DRUG;

AMINO ACID COMPOSITION; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DOWN REGULATION; FEMALE; GENE EXPRESSION; GENETIC CONSERVATION; GENETIC TRANSCRIPTION; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; XENOPUS;

AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; DNA, RIBOSOMAL; DOWN-REGULATION; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HELA CELLS; HUMANS; MANDIBULOFACIAL DYSOSTOSIS; MICROINJECTIONS; MOLECULAR SEQUENCE DATA; MOLECULAR WEIGHT; NUCLEAR PROTEINS; OLIGONUCLEOTIDES, ANTISENSE; OOCYTES; PHOSPHOPROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION, GENETIC; XENOPUS LAEVIS; XENOPUS PROTEINS;

ANURA; CANIS FAMILIARIS; EUKARYOTA; MAMMALIA; XENOPUS LAEVIS;

EID: 25144471221     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.04.042     Document Type: Article

References (30)

1. J.S. Andersen Directed proteomic analysis of the human nucleolus Curr. Biol. 12 2002 1 11
2. I.L. Blitz, K.W. Cho, and C. Chang Twisted gastrulation loss-of-function analyses support its role as a BMP inhibitor during early Xenopus embryogenesis Development 130 2003 4975 4988
3. J. Dixon, and M.J. Dixon Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle Dev. Dyn. 229 2004 907 914
4. J. Dixon, S.J. Edwards, I. Anderson, A. Brass, P.J. Scambler, and M.J. Dixon Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene Genome Res. 7 1997 223 234
5. J. Dixon, K. Hovanes, R. Shiang, and M.J. Dixon Sequence analysis, identification and evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1 Hum. Mol. Genet. 6 1997 227 737
6. J. Dixon, C. Brakebusch, R. Fassler, and M.J. Dixon Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome Hum. Mol. Genet. 9 2000 1473 1480
7. J. Dixon, I. Ellis, A. Bottani, K. Temple, and M.J. Dixon Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins Syndrome Am. J. Med. Genet. 127A 2004 244 248
8. S.J. Edwards, A.J. Gladwin, and M.J. Dixon The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon Am. J. Hum. Genet. 60 1997 515 524
9. I. Grummt, and C.S. Pikaard Epigenetic silencing of RNA polymerase I transcription Nat. Rev., Mol. Cell Biol. 4 2003 641 649
10. K.E. Haworth Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types Mamm. Genome 12 2001 622 629
11. T. Hayano, M. Yanagida, Y. Yamauchi, T. Sinkawa, T. Isobe, and N. Takahashi Proteomic analysis of human NOP56p-associated pre-ribosomal ribonucleoprotein complexes: possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome J. Biol. Chem. 278 2003 34309 34319
12. C. Isaac Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome Mol. Biol. Cell 11 2000 3061 3071
13. S. Kenwick, E. Amaya, and N. Papalopulu Pilot morpholino screen in Xenopus tropicalis identifies a novel gene involved in head development Dev. Dyn. 229 2004 289 299
14. D.J. Leary, and S. Huang Regulation of ribosome biogenesis within the nucleolus FEBS Lett. 509 2001 145 150
15. K.L. Marsh, J. Dixon, and M.J. Dixon Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle Hum. Mol. Genet. 11 1998 1795 1800
16. B. Marszalek, P. Wojcicki, K. Kobus, and W.H. Trzeciak Clinical features, treatment and genetic background of Treacher Collins syndrome J. Appl. Genet. 43 2002 223 233
17. M.J. Morgan, J.M. Woltering, P.M. In der Rieden, A.J. Durston, and J.P. Thiery YY1 regulates the neural crest-associated slug gene in Xenopus laevis J. Biol. Chem. 279 2004 46826 46834
18. M.O. Olson, K. Hingorani, and A. Szebeni Conventional and nonconventional roles of the nucleus Int. Rev. Cyt. 219 2002 199 266
19. W.A. Paznekas, N. Zhang, T. Gridley, and E.W. Jabs Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18 Biochem. Biophys. Res. Commun. 238 1997 1 6
20. T. Pederson The plurifunctional nucleolus Nucleic Acids Res. 26 1998 3871 3876
21. L. Perlaky Increased growth of NIH/3T3 cells by transfection with human p120 complementary DNA and inhibition by a p120 antisense construct Cancer Res. 52 1992 428 436
22. A. Scherl Functional proteomic analysis of human nucleolus Mol. Biol. Cell 13 2002 4100 4109
23. R.B. So, B. Gonzales, D. Henning, J. Dixon, M.J. Dixon, and B.C. Valdez Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons Gene 328 2004 49 57
24. A. Splendore High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes Hum. Mutat. 16 2000 315 322
25. The Treacher Collins Syndrome Collaborative Group Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome Nature 12 1996 130 136
26. R.Y. Tsai, and R.D. McKay A nucleolar mechanism controlling cell proliferation in stem cells and cancer cells Genes Dev. 16 2002 2991 3003
27. B.C. Valdez, D. Henning, R.B. So, J. Dixon, and M.J. Dixon 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 2004 10709 10714
28. R. Visintin, and A. Amon The nucleolus: the magician's hat for cell cycle tricks Curr. Opin. Cell Biol. 12 2000 372 377
29. C.A. Wise TCOFI 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 1997 3110 3115
30. H. Yang, J. Zhou, R.L. Ochs, D. Henning, R. Jin, and B.C. Valdez Down-regulation of RNA helicase II/Gu results in the depletion of 18 and 28 S rRNAs in Xenopus oocyte J. Biol. Chem. 278 2003 38847 38859