Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: Further evidence for haploinsufficiency of treacle as the cause of disease

Mammalian Genome

Volumn 17, Issue 2, 2006, Pages 168-177

  Shows, Kathryn H ^a   Ward, Christy ^a   Summers, Laura ^b   Li, Lin ^a   Ziegler, Gregory R ^a   Hendrickx, Andrew G ^b   Shiang, Rita ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN DERIVATIVE; TCOF1 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; REAL TIME POLYMERASE CHAIN REACTION; RHESUS MONKEY; SPLEEN;

AMINO ACID SEQUENCE; ANIMALS; CLONING, MOLECULAR; FEMALE; HAPLOTYPES; HUMANS; MACACA MULATTA; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHOPROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SPLEEN;

ANIMALIA; MACACA MULATTA; PRIMATES;

EID: 32144436428     PISSN: 09388990     EISSN: 14321777     Source Type: Journal    
DOI: 10.1007/s00335-005-0079-y     Document Type: Article

References (29)

1. Dixon MJ (1995) Treacher Collins syndrome. J Med Genet 32, 806-808
2. Dixon J, Dixon MJ (2004) 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, 907-914
3. Dixon J, Hovanes K, Shiang R, Dixon MJ (1997a) Sequence analysis, identification of 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, 727-737
4. Dixon J, Edwards SJ, Anderson I, Brass A, Scambler PJ, et al. (1997b) Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res 7, 223-234
5. Dixon J, Brakebusch C, Fassler R, Dixon MJ (2000) Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet 9, 1473-1480
6. Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ (2004) Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A 127A, 244-248
7. 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, 515-524
8. Frischmeyer PA, Dietz HC (1999) Nonsense-mediated decay in health and disease. Hum Mol Genet 8, 1893-1900
9. Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, et al. (1996) Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 5, 1533-1538
10. Haworth KE, Islam I, Breen M, Putt W, Makrinou E, et al. (2001) Canine TCOF1; cloning, chromosome assignment and genetic analysis in dogs with different head types. Mamm Genome 12, 622-629
11. Hayano T, Yanagida M, Yamauchi Y, Shinkawa T, Isobe T, et al. (2003) Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. J Biol Chem 278, 34309-34319
12. Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, et al. (2004) Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. Am J Med Genet A 128, 173-175
13. Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, et al. (2005) Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins syndrome and mechanism of mutagenesis. Am J Med Genet A 134, 363-367
14. Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, et al. (2000) Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell 11, 3061-3071
15. Jones NC, Farlie PG, Minichielle 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 7, 2239-2245
16. 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, 1795-1800
17. Marszalek B, Wojcicki P, Kobus K, Trzeciak WH (2002) Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet 43, 223-233
18. Marszalek B, Wisniewski SA, Wojcicki P, Kobus K, Trzeciak WH (2003) Novel mutation in the 5′ splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. Am J Med Genet A 123, 169-171
19. 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, 1-6
20. Rae TC (2004) Miocene hominoid craniofacial morphology and the emergence of great apes. Ann Anat 186, 417-421
21. Rae TC, Koppe T, Spoor F, Benefit B, McCrossin M (2002) Ancestral loss of the maxillary sinus in Old World monkeys and independent acquisition in Macaca. Am J Phys Anthropol 117, 293-296
22. Ross CF, Henneberg M, Ravosa MJ, Richard S (2004) Curvilinear, geometric and phylogenetic modeling of basicranial flexion: is it adaptive, is it constrained? J Hum Evol 46, 185-213
23. So RB, Gonzalez B, Henning D, Dixon J, Dixon MJ, et al. (2004) Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene 328, 49-57
24. Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, 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, 315-322
25. Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno ER (2005) TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat 25, 429-434
26. The Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12, 130-136
27. 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 USA 101, 10709-10714
28. 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, 1947-1952
29. Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, 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 USA 94, 3110-3115