{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:26:38Z","timestamp":1790515598633,"version":"4.1.0"},"reference-count":34,"publisher":"National Academy of Sciences","issue":"7","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1997,4]]},"abstract":"<jats:p>\n                    Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial\n                    <jats:italic>TCOF1<\/jats:italic>\n                    cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon\/intron genomic structure and the complete coding sequence of\n                    <jats:italic>TCOF1<\/jats:italic>\n                    .\n                    <jats:italic>TCOF1<\/jats:italic>\n                    encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase. Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals. Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms. We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.\n                  <\/jats:p>","DOI":"10.1073\/pnas.94.7.3110","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:31:39Z","timestamp":1027679499000},"page":"3110-3115","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":149,"title":["<i>TCOF1<\/i>\n                    gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout  its coding\u2009region"],"prefix":"10.1073","volume":"94","author":[{"given":"Carol A.","family":"Wise","sequence":"first","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia C.","family":"Chiang","sequence":"additional","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Paznekas","sequence":"additional","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mridula","family":"Sharma","sequence":"additional","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurice M.","family":"Musy","sequence":"additional","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Ashley","sequence":"additional","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Lovett","sequence":"additional","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin W.","family":"Jabs","sequence":"additional","affiliation":[{"name":"Departments of Otorhinolaryngology, Molecular Biology and Oncology, and the McDermott Center, University of Texas Southwestern Medical Center,  Dallas, TX 75235; and Departments of Pediatrics, Medicine, and Surgery, Center for Medical Genetics, The Johns Hopkins University School of Medicine,  Baltimore, MD 21287-3914"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1997,4]]},"reference":[{"key":"e_1_3_4_1_2","volume-title":"Syndromes of the Head and Neck","author":"Gorlin R J","year":"1990","unstructured":"R J Gorlin, M M Cohen, L S Levin Syndromes of the Head and Neck (Oxford Univ. Press, Oxford, 1990)."},{"key":"e_1_3_4_2_2","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/S0022-3476(75)80709-8","volume":"86","author":"Jones K L","year":"1975","unstructured":"K L Jones, D W Smith, M A S Harvey, B D Hall, L Quan J Pediatr 86, 84\u201388 (1975).","journal-title":"J Pediatr"},{"key":"e_1_3_4_3_2","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1002\/ajmg.1320270214","volume":"27","author":"Sulik K K","year":"1987","unstructured":"K K Sulik, M C Johnston, S J Smiley, H S Speight, B E Jarvis Am J Med Genet 27, 359\u2013372 (1987).","journal-title":"Am J Med Genet"},{"key":"e_1_3_4_4_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0007-117X(75)90019-0","volume":"13","author":"Poswillo D","year":"1975","unstructured":"D Poswillo Br J Oral Surg 13, 1\u201326 (1975).","journal-title":"Br J Oral Surg"},{"key":"e_1_3_4_5_2","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1159\/000145741","volume":"116","author":"Wiley M J","year":"1983","unstructured":"M J Wiley, P Cauwenbergs, I M Taylor Acta Anat 116, 180\u2013192 (1983).","journal-title":"Acta Anat"},{"key":"e_1_3_4_6_2","first-page":"17","volume":"49","author":"Dixon M J","year":"1991","unstructured":"M J Dixon, A P Read, D Donnai, A Colley, J Dixon, R Williamson Am J Hum Genet 49, 17\u201322 (1991).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_4_7_2","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/0888-7543(91)90118-X","volume":"11","author":"Jabs E W","year":"1991","unstructured":"E W Jabs, X Li, C A Coss, E W Taylor, D A Meyers, J L Weber Genomics 11, 193\u2013198 (1991).","journal-title":"Genomics"},{"key":"e_1_3_4_8_2","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1093\/hmg\/1.4.249","volume":"1","author":"Dixon M J","year":"1992","unstructured":"M J Dixon, J Dixon, D Raskova, M M Le Beau, R Williamson, K Klinger, G M Landes Hum Mol Genet 1, 249\u2013253 (1992).","journal-title":"Hum Mol Genet"},{"key":"e_1_3_4_9_2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1006\/geno.1993.1420","volume":"18","author":"Jabs E W","year":"1993","unstructured":"E W Jabs, X Li, M Lovett, L H Yamaoka, E Taylor, M C Speer, C Coss, R Cadle, B Hall, K Brown, K K Kidd, G Dolganov, M H Polymeropoulos, D A Meyers Genomics 18, 7\u201313 (1993).","journal-title":"Genomics"},{"key":"e_1_3_4_10_2","first-page":"907","volume":"52","author":"Dixon M J","year":"1993","unstructured":"M J Dixon, J Dixon, T Houseal, M Bhatt, D C Ward, K Klinger, G M Landes Am J Hum Genet 52, 907\u2013914 (1993).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_4_11_2","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1006\/geno.1994.1096","volume":"19","author":"Li X","year":"1994","unstructured":"X Li, C A Wise, D Le Paslier, A L Hawkins, C A Griffin, S J Pittler, M Lovett, E W Jabs Genomics 19, 470\u2013477 (1994).","journal-title":"Genomics"},{"key":"e_1_3_4_12_2","first-page":"372","volume":"55","author":"Dixon J","year":"1994","unstructured":"J Dixon, A J Gladwin, S K Loftus, J Riley, R Perveen, J J Wasmuth, R Anand, J J Dixon Am J Hum Genet 55, 372\u2013378 (1994).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_4_13_2","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1101\/gr.6.1.26","volume":"6","author":"Loftus S K","year":"1996","unstructured":"S K Loftus, J Dixon, K Koprivnikar, J J Dixon, J J Wasmuth Genome Res 6, 26\u201334 (1996).","journal-title":"Genome Res"},{"key":"e_1_3_4_14_2","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng0296-130","volume":"12","year":"1996","unstructured":"Nat Genet 12, 130\u2013136 (1996).","journal-title":"Nat Genet"},{"key":"e_1_3_4_15_2","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1093\/hmg\/5.10.1533","volume":"5","author":"Gladwin A J","year":"1996","unstructured":"A J Gladwin, J Dixon, S K Loftus, S Edwards, J J Wasmuth, R C M Hennekam, M J Dixon Hum Mol Genet 5, 1533\u20131538 (1996).","journal-title":"Hum Mol Genet"},{"key":"e_1_3_4_16_2","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0022-2836(05)80360-2","volume":"215","author":"Althschul S","year":"1990","unstructured":"S Althschul, W Gish, W Miller, E Meyers, D Lipman J Mol Biol 215, 403\u2013410 (1990).","journal-title":"J Mol Biol"},{"key":"e_1_3_4_17_2","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/1050-3862(93)90037-J","volume":"10","author":"Longmire J L","year":"1993","unstructured":"J L Longmire, N C Brown, L J Meincke, M L Campbell, K L Albright, J J Fawcett, E W Campbell, R K Moyzis, C E Hildebrand, G A Evans, L L Deaven Genet Anal Tech Appl 10, 69\u201376 (1993).","journal-title":"Genet Anal Tech Appl"},{"key":"e_1_3_4_18_2","doi-asserted-by":"crossref","first-page":"9136","DOI":"10.1016\/S0021-9258(18)48058-1","volume":"262","author":"Kuenzel E A","year":"1987","unstructured":"E A Kuenzel, J A Mulligan, J Sommercorn, E G Krebs J Biol Chem 262, 9136\u20139140 (1987).","journal-title":"J Biol Chem"},{"key":"e_1_3_4_19_2","doi-asserted-by":"crossref","first-page":"18019","DOI":"10.1016\/S0021-9258(19)84673-2","volume":"264","author":"Dang C V","year":"1989","unstructured":"C V Dang, W M F Lee J Biol Chem 264, 18019\u201318023 (1989).","journal-title":"J Biol Chem"},{"key":"e_1_3_4_20_2","first-page":"2487","volume":"9","author":"Chelsky D","year":"1989","unstructured":"D Chelsky, R Ralph, G Jonak Mol Cell Biol 9, 2487\u20132492 (1989).","journal-title":"Mol Cell Biol"},{"key":"e_1_3_4_21_2","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/0092-8674(92)90539-O","volume":"70","author":"Meier U T","year":"1992","unstructured":"U T Meier, G Blobel Cell 70, 127\u2013138 (1992).","journal-title":"Cell"},{"key":"e_1_3_4_22_2","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/0888-7543(91)90170-J","volume":"11","author":"Bowcock A M","year":"1991","unstructured":"A M Bowcock, L L Cavalli-Sforza Genomics 11, 491\u2013498 (1991).","journal-title":"Genomics"},{"key":"e_1_3_4_23_2","doi-asserted-by":"crossref","first-page":"3143","DOI":"10.1002\/j.1460-2075.1988.tb03181.x","volume":"7","author":"Garcia J A","year":"1988","unstructured":"J A Garcia, D Harrick, L Pearson, R Mitsuyasu, R B Gaynor EMBO J 7, 3143\u20133147 (1988).","journal-title":"EMBO J"},{"key":"e_1_3_4_24_2","first-page":"4048","volume":"8","author":"Dang C V","year":"1988","unstructured":"C V Dang, W M F Lee Mol Cell Biol 8, 4048\u20134054 (1988).","journal-title":"Mol Cell Biol"},{"key":"e_1_3_4_25_2","doi-asserted-by":"crossref","first-page":"6455","DOI":"10.1073\/pnas.82.19.6455","volume":"82","author":"Hunt C","year":"1985","unstructured":"C Hunt, R I Morimoto Proc Natl Acad Sci USA 82, 6455\u20136459 (1985).","journal-title":"Proc Natl Acad Sci USA"},{"key":"e_1_3_4_26_2","first-page":"227","volume":"971","author":"Meggio F","year":"1988","unstructured":"F Meggio, L A Pinna Biochim Biophys Acta 971, 227\u2013231 (1988).","journal-title":"Biochim Biophys Acta"},{"key":"e_1_3_4_27_2","doi-asserted-by":"crossref","first-page":"1911","DOI":"10.1242\/jcs.108.5.1911","volume":"108","author":"Pai C-Y","year":"1995","unstructured":"C-Y Pai, H-K Chen, H-L Sheu, N-H Yeh J Cell Sci 108, 1911\u20131920 (1995).","journal-title":"J Cell Sci"},{"key":"e_1_3_4_28_2","doi-asserted-by":"crossref","first-page":"3339","DOI":"10.1242\/jcs.108.10.3339","volume":"108","author":"Cairns C","year":"1995","unstructured":"C Cairns, B McStay J Cell Sci 108, 3339\u20133347 (1995).","journal-title":"J Cell Sci"},{"key":"e_1_3_4_29_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1083\/jcb.113.1.1","volume":"113","author":"Lee W-C","year":"1991","unstructured":"W-C Lee, Z Xue, T Melese J Cell Biol 113, 1\u201312 (1991).","journal-title":"J Cell Biol"},{"key":"e_1_3_4_30_2","first-page":"3865","volume":"12","author":"Lee W-C","year":"1992","unstructured":"W-C Lee, D Zabetakis, T Melese Mol Cell Biol 12, 3865\u20133871 (1992).","journal-title":"Mol Cell Biol"},{"key":"e_1_3_4_31_2","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1083\/jcb.126.4.853","volume":"126","author":"Shan X","year":"1994","unstructured":"X Shan, Z Xue, T Melese J Cell Biol 126, 853\u2013862 (1994).","journal-title":"J Cell Biol"},{"key":"e_1_3_4_32_2","doi-asserted-by":"crossref","first-page":"14922","DOI":"10.1016\/S0021-9258(18)77205-0","volume":"265","author":"Srivastava M","year":"1990","unstructured":"M Srivastava, O W McBride, P J Fleming, H B Pollard, A L Burns J Biol Chem 265, 14922\u201314931 (1990).","journal-title":"J Biol Chem"},{"key":"e_1_3_4_33_2","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/0012-1606(89)90231-5","volume":"132","author":"Boring L F","year":"1989","unstructured":"L F Boring, B Sinervo, G Shubiger Dev Biol 132, 343\u2013354 (1989).","journal-title":"Dev Biol"},{"key":"e_1_3_4_34_2","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1126\/science.256.5058.827","volume":"256","author":"Kern S E","year":"1992","unstructured":"S E Kern, J A Pietenpol, S Thiagalingam, A Seymour, K W Kinzler, B Vogelstein Science 256, 827\u2013830 (1992).","journal-title":"Science"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.94.7.3110","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T21:24:00Z","timestamp":1654550640000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.94.7.3110"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,4]]},"references-count":34,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1997,4]]}},"alternative-id":["10.1073\/pnas.94.7.3110"],"URL":"https:\/\/doi.org\/10.1073\/pnas.94.7.3110","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,4]]},"assertion":[{"value":"1996-11-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1997-01-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1997-04-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}