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

Volumn 94, Issue 7, 1997, Pages 3110-3115

  Wise, Carol A ^a,c   Chiang, Lydia C ^b   Paznekas, William A ^b   Sharma, Mridula ^b   Musy, Maurice M ^a   Ashley, Jennifer A ^a   Lovett, Michael ^a   Jabs, Ethylin W ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HETERODUPLEX; NUCLEOLIN;

AMINO ACID SEQUENCE; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; GENE MUTATION; GENE STRUCTURE; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR CLONING; OPEN READING FRAME; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEQUENCE ANALYSIS;

BASE SEQUENCE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; FEMALE; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS; SYNDROME;

EID: 0030995546     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.94.7.3110     Document Type: Article

References (34)

1. Gorlin, R. J., Cohen, M. M. & Levin, L. S. (1990) Syndromes of the Head and Neck (Oxford Univ. Press, Oxford).
2. Jones, K. L., Smith, D. W., Harvey, M. A. S., Hall, B. D. & Quan, L. (1975) J. Pediatr. 86, 84-88.
3. Sulik, K. K., Johnston, M. C., Smiley, S. J., Speight, H. S. & Jarvis, B. E. (1987) Am. J. Med. Genet. 27, 359-372.
4. Poswillo, D. (1975) Br. J. Oral Surg. 13, 1-26.
5. Wiley, M. J., Cauwenhergs, P. & Taylor, I. M. (1983) Acta Anat. 116, 180-192.
6. Dixon, M. J., Read, A. P., Donnai, D., Colley, A., Dixon, J. & Williamson, R. (1991) Am. J. Hum. Genet. 49, 17-22.
7. Jabs, E. W., Li, X., Coss, C. A., Taylor, E. W., Meyers, D. A. & Weber, J. L. (1991) Genomics 11, 193-198.
8. Dixon, M. J., Dixon, J., Raskova, D., Le Beau, M. M., Williamson, R., Klinger, K. & Landes, O. M. (1992) Hum. Mol. Genet. 1, 249-253.
9. Jabs, E. W., Li, X., Lovett, M., Yamaoka, L. H., Taylor, E., Speer, M. C., Coss, C., Cadle, R., Hall, B., Brown, K., Kidd, K. K., Dolganov, G., Polyraeropoulos, M. H. & Meyers, D. A. (1993) Genomics 18, 7-13.
10. Dixon, M. J., Dixon, J., Houseal, T., Bhatt, M., Ward, D. C., Klinger, K. & Landes, G. M. (1993) Am. J. Hum. Genet. 52, 907-914.
11. Li, X., Wist, C. A., Le Paslier, D., Hawkins, A. L., Griffin, C. A., Pittler, S. J., Lovett, M. & Jabs, E. W. (1994) Genomics 19, 470-477.
12. Dixon, J., Gladwin, A. J., Loftus, S. K., Riley, J., Perveen, R., Wasmuth, J. J., Anand, R. & Dixon, J. J. (1994) Am. J. Hum. Genet. 55, 372-378.
13. Loftus, S. K., Dixon, J., Koprivnikar, K., Dixon, J. J. & Wasmuth, J. J. (1996) Genome Res. 6, 26-34.
14. The Treacher Collins Syndrome Cullahorative Group (1996) Nat. Genet. 12, 130-136.
15. Gladwin, A. J., Dixon, J., Loftus, S. K., Edwards, S., Wasmuth, J. J., Hennekam, R. C. M. & Dixon, M. J. (1996) Hum. Mol. Genet. 5, 1533-1538.
16. Althschul, S., Gish, W., Miller, W., Meyers, E. & Lipman, D. (1990) J. Mol. Biol. 215, 403-410.
17. Longmire, J. L., Brown, N. C., Meincke, L. J., Campbell, M. L., Albright, K. L., Fawcett, J. J., Campbell, E. W., Moyzis, R. K., Hildebrand, C. E., Evans, G. A. & Deaven, L. L. (1993) Genet. Anal. Tech. Appl. 10, 69-76.
18. Kuenzel, E. A., Mulligan, J. A., Sommercorn, J. & Krebs, E. G. (1987) J. Biol. Chem. 262, 9136-9140.
19. Dang, C. V. & Lee, W. M. F. (1989) J. Biol. Chem. 264, 18019-18023.
20. Chelsky, D., Ralph, R. & Jonak, G. (1989) Mol. Cell. Biol. 9, 2487-2492.
21. Meier, U. T. & Blobel, G. (1992) Cell 70, 127-138.
22. Bowcock, A. M. & Cavalli-Sforza, L. L. (1991) Genomics 11, 491-498.
23. Garcia, J. A., Harrick, D., Pearson, L., Mitsuyasu, R. & Gaynor, R. B. (1988) EMBO J. 7, 3143-3147.
24. Dang, C. V. & Lee, W. M. F. (1988) Mol. Cell. Biol. 8, 4048-4054.
25. Hunt, C. & Morimoto, R. I. (1985) Proc. Natl. Acad. Sci. USA 82, 6455-6459.
26. Meggio, F. & Pinna, L. A. (1988) Biochim. Biophys. Acta 971, 227-231.
27. Pai, C.-Y., Chen, H.-K., Sheu, H.-L. & Yeh, N.-H. (1995) J. Cell Sci. 108, 1911-1920.
28. Cairns, C. & McStay, B. (1995) J. Cell Sci. 108, 3339-3347.
29. Lee, W.-C. Xue, Z. & Melese, T. (1991) J. Cell Biol. 113, 1-12.
30. Lee, W.-C., Zabetakis, D. & Melese, T. (1992) Mol. Cell. Biol. 12, 3865-3871.
31. Shan, X., Xue, Z. & Melese, T. (1994) J. Cell Biol. 126, 853-862.
32. Srivastava, M., McBride, O. W., Fleming, P. J., Pollard, H. B. & Burns, A. L. (1990) J. Biol. Chem. 265, 14922-14931.
33. Boring, L. F., Sinervo, B. & Shubiger, G. (1989) Dev. Biol. 132, 343-354.
34. Kern, S. E., Pietenpol, J. A., Thiagalinuam, S., Seymour, A., Kinzler, K. W. & Vogelstein, B. (1992) Science 256, 827-830.