Aoto, K, Sandell, LL, Butler, Tjaden NE, Yuen, KC, Watt, KE, Black, BL, Durnin, M, Trainor, PA. Mef2c‐F10N enhancer driven beta‐galactosidase (LacZ) and Cre recombinase mice facilitate analyses of gene function and lineage fate in neural crest cells. Dev Biol 2015, 402:3–16.
Frisdal, A, Trainor, PA. Development and evolution of the pharyngeal apparatus. WIREs Dev Biol 2014, 3:403–418.
Trainor, P, Krumlauf, R. Plasticity in mouse neural crest cells reveals a new patterning role for cranial mesoderm. Nat Cell Biol 2000, 2:96–102.
Le Douarin, N, Kalcheim, C. The neural crest. Cambridge, UK: Cambridge University Press; 1999, xxiii, 445 pp.
Trainor, PA, Tam, PP. Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co‐distribution in the craniofacial mesenchyme but distinct segregation in branchial arches. Development 1995, 121:2569–2582.
Trainor, PA, Tan, SS, Tam, PP. Cranial paraxial mesoderm: regionalisation of cell fate and impact on craniofacial development in mouse embryos. Development 1994, 120:2397–2408.
Noden, DM, Trainor, PA. Relations and interactions between cranial mesoderm and neural crest populations. J Anat 2005, 207:575–601.
Trainor, P. %22Molecular blueprint for craniofacial morphogenesis and development%22. In: Huang, GT‐J, Thesleff, I, eds. Stem Cells in Craniofacial Developmen and Regeneration. Hoboken, NJ: Wiley; 2013, 3–29.
Rovin, S, Dachi, SF, Borenstein, DB, Cotter, WB. Mandibulofacial dysostosis, a familial study of five generations. J Pediatr 1964, 65:215–221.
The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 1996, 12:130–136.
Dixon, MJ, Marres, HA, Edwards, SJ, Dixon, J, Cremers, CW. Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol 1994, 3:96–103.
Marres, HA, Cremers, CW, Dixon, MJ, Huygen, PL, Joosten, FB. The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees. Arch Otolaryngol Head Neck Surg 1995, 121:509–514.
Edwards, SJ, Fowlie, A, Cust, MP, Liu, DT, Young, ID, Dixon, MJ. Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J Med Genet 1996, 33:603–606.
Fang, J, Chiumi, T, Yagi, M, Matsumoto, S, Amamoto, R, Saito, T, Takazaki, S, Kanki, T, Yamaza, H, Nonaka, K. Protein instability and functional defects caused by mutations of dihydro‐orotate dehydrogenase in Miller syndrome patients. Biosci Rep 2012, 32:631–639.
Rainger, J, Bengani, H, Campbell, L, Anderson, E, Sokhi, K, Lam, W, Riess, A, Ansari, M, Smithson, S, Lees, M, et al. Miller (Genee‐Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. Hum Mol Genet 2012, 21:3969–3983.
Hall, BD. Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. Am J Med Genet 1989, 33:394–397.
Chemke, J, Mogilner, BM, Ben‐Itzhak, I, Zurkowski, L, Ophir, D. Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet 1988, 25:230–232.
Aylsworth, AS, Lin, AE, Friedman, PA. Nager acrofacial dysostosis: male‐to‐male transmission in 2 families. Am J Med Genet 1991, 41:83–88.
Weaver, KN, Watt, KE, Hufnagel, RB, Navajas, Acedo J, Linscott, LL, Sund, KL, Bender, PL, König, R, Lourenco, CM, Hehr, U, et al. Acrofacial dysostosis, cincinnati type, a mandibulofacial dysostosis syndrome with limb anomalies, is caused by POLR1A dysfunction. Am J Hum Genet 2015, 96:765–774.
Fazen, LE, Elmore, J, Nadler, HL. Mandibulo‐facial dysostosis. (Treacher‐Collins syndrome). Am J Dis Child 1967, 113:405–410.
Phelps, PD, Poswillo, D, Lloyd, GA. The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome). Clin Otolaryngol Allied Sci 1981, 6:15–28.
Wise, CA, Chiang, LC, Paznekas, WA, Sharma, M, Musy, MM, Ashley, JA, Lovett, M, Jabs, EW. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci USA 1997, 94:3110–3115.
Dixon, J, Edwards, SJ, Anderson, I, Brass, A, Scambler, PJ, Dixon, MJ. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res 1997, 7:223–234.
So RB, GB, Henning, D, Dixon, J, Dixon, MJ, Valdez, BC. Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. Gene 2004, 328:49–57.
Gladwin, AJ, Dixon, J, Loftus, SK, Edwards, S, Wasmuth, JJ, Hennekam, RC, Dixon, MJ. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum Mol Genet 1996, 5:1533–1538.
Edwards, SJ, Gladwin, AJ, Dixon, MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature‐termination codon. Am J Hum Genet 1997, 60:515–524.
Dixon, J, Ellis, I, Bottani, A, Temple, K, Dixon, MJ. Identification of mutations in TCOF1: use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome. Am J Med Genet A 2004, 127A:244–248.
Splendore, A, Silva, EO, Alonso, LG, Richieri‐Costa, A, Alonso, N, Rosa, A, Carakushanky, G, Cavalcanti, DP, Brunoni, D, Passos‐Bueno, MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 2000, 16:315–322.
Splendore, A, Jabs, EW, Passos‐Bueno, MR. 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. J Med Genet 2002, 39:493–495.
Splendore, A, Fanganiello, RD, Masotti, C, Morganti, LS, Passos‐Bueno, MR. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat 2005, 25:429–434.
Teber, OA, Gillessen‐Kaesbach, G, Fischer, S, Böhringer, S, Albrecht, B, Albert, A, Arslan‐Kirchner, M, Haan, E, Hagedorn‐Greiwe, M, Hammans, C, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004, 12:879–890.
Bowman, M, Oldridge, M, Archer, C, O`Rourke, A, McParland, J, Brekelmans, R, Seller, A, Lester, T. Gross deletions in TCOF1 are a cause of Treacher‐Collins‐Franceschetti syndrome. Eur J Hum Genet 2012, 20:769–777.
Beygo, J, Buiting, K, Seland, S, Lüdecke, HJ, Hehr, U, Lich, C, Prager, B, Lohmann, DR, Wieczorek, D. First report of a single exon deletion in TCOF1 causing Treacher Collins syndrome. Mol Syndromol 2012, 2:53–59.
Masotti, C, Ornelas, CC, Splendore‐Gordonos, A, Moura, R, Félix, TM, Alonso, N, Camargo, AA, Passos‐Bueno, MR. Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients. BMC Med Genet 2009, 10:136.
Jones, KL, Smith, DW, Harvey, MA, Hall, BD, Quan, L. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr 1975, 86:84–88.
Saudi Mendeliome, G. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases. Genome Biol 2015, 16:134.
Dauwerse, JG, Dixon, J, Seland, S, Ruivenkamp, CA, van Haeringen, A, Hoefsloot, LH, Peters, DJ, Boers, AC, Daumer‐Haas, C, Maiwald, R, et al. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet 2011, 43:20–22.
Yao, Y, Yamamoto, K, Nishi, Y, Nogi, Y, Muramatsu, M. Mouse RNA polymerase I 16‐kDa subunit able to associate with 40‐kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. J Biol Chem 1996, 271:32881–32885.
Vincent, M, Geneviève, D, Ostertag, A, Marlin, S, Lacombe, D, Martin‐Coignard, D, Coubes, C, David, A, Lyonnet, S, Vilain, C, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med 2016, 18:49–56.
Isaac, C, Marsh, KL, Paznekas, WA, Dixon, J, Dixon, MJ, Jabs, EW, Meier, UT. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell 2000, 11:3061–3071.
Marsh, KL, Dixon, J, Dixon, MJ. Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. Hum Mol Genet 1998, 7:1795–1800.
Winokur, ST, Shiang, R. The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C‐terminus. Hum Mol Genet 1998, 7:1947–1952.
Valdez, BC, Henning, D, So, RB, Dixon, J, Dixon, MJ. 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 2004, 101:10709–10714.
Gonzales, B, Henning, D, So, RB, Dixon, J, Dixon, MJ, Valdez, BC. The Treacher Collins syndrome (TCOF1) gene product is involved in pre‐rRNA methylation. Hum Mol Genet 2005, 14:2035–2043.
Hayano, T, Yanagida, M, Yamauchi, Y, Shinkawa, T, Isobe, T, Takahashi, N. 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 2003, 278:34309–34319.
Lin, CI, Yeh, NH. Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF. Biochem Biophys Res Commun 2009, 386:396–401.
Dixon, J, Hovanes, K, Shiang, R, Dixon, MJ. 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 1997, 6:727–737.
Dixon, J, Jones, NC, Sandell, LL, Jayasinghe, SM, Crane, J, Rey, JP, Dixon, MJ, Trainor, PA. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci USA 2006, 103:13403–13408.
Dixon, J, Brakebusch, C, Fassler, R, Dixon, MJ. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Hum Mol Genet 2000, 9:1473–1480.
Dixon, J, Dixon, MJ. 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 2004, 229:907–914.
Richter, CA, Amin, S, Linden, J, Dixon, J, Dixon, MJ, Tucker, AS. Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. Hum Mol Genet 2010, 19:1551–1560.
Sakai, D, Dixon, J, Dixon, MJ, Trainor, PA. Mammalian neurogenesis requires Treacle‐Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells. PLoS Genet 2012, 8:e1002566.
Conley, ZR, Hague, M, Kurosaka, H, Dixon, J, Dixon, MJ, Trainor, PA. A quantitative method for defining high‐arched palate using the Tcof1(+/−) mutant mouse as a model. Dev Biol 2016, 415:296–305.
Poswillo, D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br J Oral Surg 1975, 13:1–26.
Chakraborty, A, Uechi, T, Kenmochi, N. Guarding the ‘translation apparatus’: defective ribosome biogenesis and the p53 signaling pathway. WIREs RNA 2011, 2:507–522.
Garden, GA, Hartlage‐Rubsamen, M, Rubel, EW, Bothwell, MA. Protein masking of a ribosomal RNA epitope is an early event in afferent deprivation‐induced neuronal death. Mol Cell Neurosci 1995, 6:293–310.
Werner, A, Iwasaki, S, McGourty, CA, Medina‐Ruiz, S, Teerikorpi, N, Fedrigo, I, Ingolia, NT, Rape, M. Cell‐fate determination by ubiquitin‐dependent regulation of translation. Nature 2015, 525:523–527.
Jones, NC, Lynn, ML, Gaudenz, K, Sakai, D, Aoto, K, Rey, JP, Glynn, EF, Ellington, L, Du, C, Dixon, J, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 2008, 14:125–133.
Levine, AJ. p53, the cellular gatekeeper for growth and division. Cell 1997, 88:323–331.
Komarov, PG, Zhang, Y, Nomura, M, Bode, AM, Ma, WY, She, QB, Dong, Z. A chemical inhibitor of p53 that protects mice from the side effects of cancer therapy. Science 1999, 285:1733–1737.
Sakai, D, Dixon, J, Achilleos, A, Dixon, M, Trainor, PA. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation. Nat Commun 2016, 7:10328.
Kuo, LJ, Yang, LX. Gamma‐H2AX – a novel biomarker for DNA double‐strand breaks. In Vivo 2008, 22:305–309.
Larsen, DH, Hari, F, Clapperton, JA, Gwerder, M, Gutsche, K, Altmeyer, M, Jungmichel, S, Toledo, LI, Fink, D, Rask, MB, et al. The NBS1‐Treacle complex controls ribosomal RNA transcription in response to DNA damage. Nat Cell Biol 2014, 16:792–803.
Ciccia, A, Huang, JW, Izhar, L, Sowa, ME, Harper, JW, Elledge, SJ. Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response. Proc Natl Acad Sci USA 2014, 111:18631–18636.
Noack Watt, KE, Achilleos, A, Neben, CL, Merrill, AE, Trainor, PA. The roles of RNA polymerase I and III subunits Polr1c and Polr1d in craniofacial development and in zebrafish models of Treacher Collins Syndrome. PLoS Genet 2016, 12:e1006187.
Lau, MC, Kwong, EM, Lai, KP, Li, JW, Ho, JC, Chan, TF, Wong, CK, Jiang, YJ, Tse, WK. Pathogenesis of POLR1C‐dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model. Biochim Biophys Acta 2016, 1862:1147–1158.
Trainor, PA, Andrews, BT. Facial dysostoses: etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet 2013, 163C:283–294.
Guion‐Almeida, ML, Zechi‐Ceide, RM, Vendramini, S, Tabith Junior, A. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol 2006, 15:171–174.
Luquetti, DV, Hing, AV, Rieder, MJ, Nickerson, DA, Turner, EH, Smith, J, Park, S, Cunningham, ML. “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A 2013, 161A:108–113.
Nur, BG, Bernier, FP, Oztekin, O, Kardelen, F, Kalay, S, Parboosingh, JS, Mihci, E. Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. Am J Med Genet A 2013, 161A:2311–2315.
Deml, B, Reis, LM, Muheisen, S, Bick, D, Semina, EV. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Birth Defects Res A Clin Mol Teratol 2015, 103:630–640.
Devotta, A, Juraver‐Geslin, H, Gonzalez, JA, Hong, CS, Saint‐Jeannet, JP. Sf3b4‐depleted Xenopus embryos: a model to study the pathogenesis of craniofacial defects in Nager syndrome. Dev Biol 2016, 415:371–382.
Czeschik, JC, Voigt, C, Alanay, Y, Albrecht, B, Avci, S, Fitzpatrick, D, Goudie, DR, Hehr, U, Hoogeboom, AJ, Kayserili, H, et al. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Hum Genet 2013, 132:885–898.
Bernier, FP, Caluseriu, O, Ng, S, Schwartzentruber, J, Buckingham, KJ, Innes, AM, Jabs, EW, Innis, JW, Schuette, JL, Gorski, JL, et al. Haploinsufficiency of SF3B4, a component of the pre‐mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet 2012, 90:925–933.
Kennedy, SJ, Teebi, AS. Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Am J Med Genet A 2004, 129A:73–76.
Petit, F, Escande, F, Jourdain, AS, Porchet, N, Amiel, J, Doray, B, Delrue, MA, Flori, E, Kim, CA, Marlin, S, et al. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. Clin Genet 2014, 86:246–251.
Robert, B. Bone morphogenetic protein signaling in limb outgrowth and patterning. Dev Growth Differ 2007, 49:455–468.
Watanabe, H, Shionyu, M, Kimura, T, Kimata, K, Watanabe, H. Splicing factor 3b subunit 4 binds BMPR‐IA and inhibits osteochondral cell differentiation. J Biol Chem 2007, 282:20728–20738.
Miller, M, Fineman, R, Smith, DW. Postaxial acrofacial dysostosis syndrome. J Pediatr 1979, 95:970–975.
Ng, SB, Buckingham, KJ, Lee, C, Bigham, AW, Tabor, HK, Dent, KM, Huff, CD, Shannon, PT, Jabs, EW, Nickerson, DA, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010, 42:30–35.
White, RM, Cech, J, Ratanasirintrawoot, S, Lin, CY, Rahl, PB, Burke, CJ, Langdon, E, Tomlinson, ML, Mosher, J, Kaufman, C, et al. DHODH modulates transcriptional elongation in the neural crest and melanoma. Nature 2011, 471:518–522.
Hail, N Jr, Chen, P, Kepa, JJ, Bushman, LR, Shearn, C. Dihydroorotate dehydrogenase is required for N‐(4‐hydroxyphenyl)retinamide‐induced reactive oxygen species production and apoptosis. Free Radic Biol Med 2010, 49:109–116.
Fang, J, Uchiumi, T, Yagi, M, Matsumoto, S, Amamoto, R, Takazaki, S, Yamaza, H, Nonaka, K, Kang, D. Dihydro‐orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction. Biosci Rep 2013, 33:e00021.
Haupt, Y, Maya, R, Kazaz, A, Oren, M. Mdm2 promotes the rapid degradation of p53. Nature 1997, 387:296–299.
Toledo, F, Wahl, GM. Regulating the p53 pathway: in vitro hypotheses, in vivo veritas. Nat Rev Cancer 2006, 6:909–923.
Sagar, V, Caldarola, S, Aria, V, Monteleone, V, Fuoco, C, Gargioli, C, Cannata, S, Loreni, F. PIM1 destabilization activates a p53‐dependent response to ribosomal stress in cancer cells. Oncotarget 2016, 7:23837–23849.
Bhat, KP, Itahana, K, Jin, A, Zhang, Y. Essential role of ribosomal protein L11 in mediating growth inhibition‐induced p53 activation. EMBO J 2004, 23:2402–2412.
Dai, MS, Lu, H. Inhibition of MDM2‐mediated p53 ubiquitination and degradation by ribosomal protein L5. J Biol Chem 2004, 279:44475–44482.
Dai, MS, Zeng, SX, Jin, Y, Sun, XX, David, L, Lu, H. Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition. Mol Cell Biol 2004, 24:7654–7668.
Lohrum, MA, Ludwig, RL, Kubbutat, MH, Hanlon, M, Vousden, KH. Regulation of HDM2 activity by the ribosomal protein L11. Cancer Cell 2003, 3:577–587.
Marechal, V, Elenbaas, B, Piette, J, Nicolas, JC, Levine, AJ. The ribosomal L5 protein is associated with mdm‐2 and mdm‐2‐p53 complexes. Mol Cell Biol 1994, 14:7414–7420.
Xue, S, Barna, M. Specialized ribosomes: a new frontier in gene regulation and organismal biology. Nat Rev Mol Cell Biol 2012, 13:355–369.
Trainor, PA, Richtsmeier, JT. Facing up to the challenges of advancing craniofacial research. Am J Med Genet A 2015, 167:1451–1454.