FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate

Jugessur, 2005, Orofacial clefting: recent insights into a complex trait, Curr. Opin. Genet. Dev., 15, 270, 10.1016/j.gde.2005.03.003 Murray, 2002, Gene/environment causes of cleft lip and/or palate, Clin. Genet., 61, 248, 10.1034/j.1399-0004.2002.610402.x Stanier, 2004, Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts, Hum. Mol. Genet., 13, R73, 10.1093/hmg/ddh052 Vieira, 2005, Medical sequencing of candidate genes for nonsyndromic cleft lip and palate, PLoS Genet., 1, e64, 10.1371/journal.pgen.0010064 Zucchero, 2004, Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate, N. Engl. J. Med., 351, 769, 10.1056/NEJMoa032909 Nie, 2006, FGF signalling in craniofacial development and developmental disorders, Oral Dis., 12, 102, 10.1111/j.1601-0825.2005.01176.x Riley, 2007, Impaired FGF signaling contributes to cleft lip and palate, Proc. Natl. Acad. Sci. U. S. A., 104, 4512, 10.1073/pnas.0607956104 Alkuraya, 2006, SUMO1 haploinsufficiency leads to cleft lip and palate, Science, 313, 1751, 10.1126/science.1128406 Andreou, 2007, TBX22 missense mutations found in X-linked cleft palate (CPX) patients affect DNA binding, sumoylation and transcriptional repression, Am. J. Hum. Genet., 81, 700, 10.1086/521033 Jiang, 2006, Development of the upper lip: morphogenetic and molecular mechanisms, Dev. Dyn., 235, 1152, 10.1002/dvdy.20646 Gritli-Linde, 2007, Molecular control of secondary palate development, Dev. Biol., 301, 309, 10.1016/j.ydbio.2006.07.042 Knecht, 2002, Induction of the neural crest: a multigene process, Nat. Rev. Genet., 3, 453, 10.1038/nrg819 Ibrahimi, 2004, Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity, Hum. Mol. Genet., 13, 69, 10.1093/hmg/ddh011 Entesarian, 2005, Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands, Nat. Genet., 37, 125, 10.1038/ng1507 Bachler, 2001, Expression of members of the Fgf family and their receptors during midfacial development, Mech. Dev., 100, 313, 10.1016/S0925-4773(00)00518-9 Alappat, 2005, The cellular and molecular etiology of the cleft secondary palate in Fgf10 mutant mice, Dev. Biol., 277, 102, 10.1016/j.ydbio.2004.09.010 De Moerlooze, 2000, An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis, Development, 127, 483, 10.1242/dev.127.3.483 Rice, 2004, Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate, J. Clin. Invest., 113, 1692, 10.1172/JCI20384 Wilkie, 2001, Genetics of craniofacial development and malformation, Nat. Rev. Genet., 2, 458, 10.1038/35076601 Kreiborg, 1992, The oral manifestations of Apert syndrome, J. Craniofac. Genet. Dev. Biol., 12, 41 Dode, 2004, Kallmann syndrome: fibroblast growth factor signaling insufficiency?, J. Mol. Med., 82, 725, 10.1007/s00109-004-0571-y Dode, 2007, Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis, Hum. Mutat., 28, 97, 10.1002/humu.9470 Trokovic, 2003, Fgfr1 regulates patterning of the pharyngeal region, Genes Dev., 17, 141, 10.1101/gad.250703 Dode, 2003, Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome, Nat. Genet., 33, 463, 10.1038/ng1122 Abu-Issa, 2002, Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse, Development, 129, 4613, 10.1242/dev.129.19.4613 Albertson, 2007, Fgf8 haploinsufficiency results in distinct craniofacial defects in adult zebrafish, Dev. Biol., 306, 505, 10.1016/j.ydbio.2007.03.025 Seeler, 2003, Nuclear and unclear functions of SUMO, Nat. Rev. Mol. Cell Biol., 4, 690, 10.1038/nrm1200 FitzPatrick, 2003, Identification of SATB2 as the cleft palate gene on 2q32-q33, Hum. Mol. Genet., 12, 2491, 10.1093/hmg/ddg248 Leoyklang, 2007, Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects, Hum. Mutat., 28, 732, 10.1002/humu.20515 Dobreva, 2006, SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation, Cell, 125, 971, 10.1016/j.cell.2006.05.012 Modesto, 2006, MSX1 and orofacial clefting with and without tooth agenesis, J. Dent. Res., 85, 542, 10.1177/154405910608500612 Satokata, 1994, Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development, Nat. Genet., 6, 348, 10.1038/ng0494-348 Lidral, 2005, Progress toward discerning the genetics of cleft lip, Curr. Opin. Pediatr., 17, 731, 10.1097/01.mop.0000185138.65820.7f Jezewski, 2003, Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate, J. Med. Genet., 40, 399, 10.1136/jmg.40.6.399 Gupta, 2006, Modification of Msx1 by SUMO-1, Biochem. Biophys. Res. Commun., 345, 74, 10.1016/j.bbrc.2006.03.232 Lee, 2006, PIAS1 confers DNA-binding specificity on the Msx1 homeoprotein, Genes Dev., 20, 784, 10.1101/gad.1392006 Ghioni, 2005, The protein stability and transcriptional activity of p63alpha are regulated by SUMO-1 conjugation, Cell Cycle, 4, 183, 10.4161/cc.4.1.1359 Mills, 1999, p63 is a p53 homologue required for limb and epidermal morphogenesis, Nature, 398, 708, 10.1038/19531 Yang, 1999, p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development, Nature, 398, 714, 10.1038/19539 Rinne, 2007, p63-associated disorders, Cell Cycle, 6, 262, 10.4161/cc.6.3.3796 Huang, 2004, Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype, Cell Cycle, 3, 1587, 10.4161/cc.3.12.1290 Braybrook, 2001, The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia, Nat. Genet., 29, 179, 10.1038/ng730 Marcano, 2004, TBX22 mutations are a frequent cause of cleft palate, J. Med. Genet., 41, 68, 10.1136/jmg.2003.010868 Kaiser, 2007, SUMOylation modulates transcriptional repression by TRPS1, Biol. Chem., 388, 381, 10.1515/BC.2007.051 Momeni, 2000, Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I, Nat. Genet., 24, 71, 10.1038/71717 Malik, 2002, Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes, Mol. Cell. Biol., 22, 8592, 10.1128/MCB.22.24.8592-8600.2002 Tsuruzoe, 2006, Inhibition of DNA binding of Sox2 by the SUMO conjugation, Biochem. Biophys. Res. Commun., 351, 920, 10.1016/j.bbrc.2006.10.130 Taylor, 2005, SoxE factors function equivalently during neural crest and inner ear development and their activity is regulated by SUMOylation, Dev. Cell, 9, 593, 10.1016/j.devcel.2005.09.016 Lin, 2003, Activation of transforming growth factor-beta signaling by SUMO-1 modification of tumor suppressor Smad4/DPC4, J. Biol. Chem., 278, 18714, 10.1074/jbc.M302243200 Wyszynski, 1996, Genetics of nonsyndromic oral clefts revisited, Cleft Palate J., 33, 406, 10.1597/1545-1569(1996)033<0406:GONOCR>2.3.CO;2 Chakravarti, 2003, Nature, nurture and human disease, Nature, 421, 412, 10.1038/nature01401 Shi, 2007, Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants, Am. J. Hum. Genet., 80, 76, 10.1086/510518 Bossis, 2006, Regulation of SUMOylation by reversible oxidation of SUMO conjugating enzymes, Mol. Cell, 21, 349, 10.1016/j.molcel.2005.12.019 Sramko, 2006, Stress-induced inactivation of the c-Myb transcription factor through conjugation of SUMO-2/3 proteins, J. Biol. Chem., 281, 40065, 10.1074/jbc.M609404200 Mouta, 2001, The comparative release of FGF1 by hypoxia and temperature stress, Growth Factors, 18, 277, 10.3109/08977190109029116 Ganat, 2002, Chronic hypoxia up-regulates fibroblast growth factor ligands in the perinatal brain and induces fibroblast growth factor-responsive radial glial cells in the sub-ependymal zone, Neuroscience, 112, 977, 10.1016/S0306-4522(02)00060-X Battersby, 2003, Isolation of proteins that interact with the signal transduction molecule Dof and identification of a functional domain conserved between Dof and vertebrate BCAP, J. Mol. Biol., 329, 479, 10.1016/S0022-2836(03)00489-3 Deng, 1994, Murine FGFR-1 is required for early postimplantation growth and axial organization, Genes Dev., 8, 3045, 10.1101/gad.8.24.3045 Passos-Bueno, 1999, Clinical spectrum of fibroblast growth factor receptor mutations, Hum. Mutat., 14, 115, 10.1002/(SICI)1098-1004(1999)14:2<115::AID-HUMU3>3.0.CO;2-2 Eswarakumar, 2004, A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis, Proc. Natl. Acad. Sci. U. S. A., 101, 12555, 10.1073/pnas.0405031101 Moon, 2000, Fgf8 is required for outgrowth and patterning of the limbs, Nat. Genet., 26, 455, 10.1038/82601 Britanova, 2006, Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development, Am. J. Hum. Genet., 79, 668, 10.1086/508214 Peters, 1998, Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities, Genes Dev., 12, 2735, 10.1101/gad.12.17.2735 Britto, 2002, Toward pathogenesis of Apert cleft palate: FGF, FGFR, and TGF beta genes are differentially expressed in sequential stages of human palatal shelf fusion, Cleft Palate Craniofac. J., 39, 332, 10.1597/1545-1569(2002)039<0332:TPOACP>2.0.CO;2 Itoh, 2004, Evolution of the Fgf and Fgfr gene families, Trends Genet., 20, 563, 10.1016/j.tig.2004.08.007 Ornitz, 2001, Fibroblast growth factors, Genome Biol., 2, 10.1186/gb-2001-2-3-reviews3005 Johnson, 2004, Protein modification by SUMO, Annu. Rev. Biochem., 73, 355, 10.1146/annurev.biochem.73.011303.074118 Gill, 2005, Something about SUMO inhibits transcription, Curr. Opin. Genet. Dev., 15, 536, 10.1016/j.gde.2005.07.004 Braybrook, 2002, Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients, Hum. Mol. Genet., 11, 2793, 10.1093/hmg/11.22.2793 Zhang, 2002, Rescue of cleft palate in Msx1-deficient mice by transgenic Bmp4 reveals a network of BMP and Shh signaling in the regulation of mammalian palatogenesis, Development, 129, 4135, 10.1242/dev.129.17.4135 Rinne, 2006, Pattern of p63 mutations and their phenotypes–update, Am. J. Med. Genet. A., 140, 1396, 10.1002/ajmg.a.31271 Chaabouni, 2005, Mutation analysis of TBX22 reveals new mutation in Tunesian CPX family, Clin. Dysmorphol., 14, 23, 10.1097/00019605-200501000-00005