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

Trends in Genetics

Volumn 23, Issue 12, 2007, Pages 631-640

  Pauws, Erwin ^a   Stanier, Philip ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 1; SUMO 1 PROTEIN;

ACROCEPHALOSYNDACTYLY; ANOSMIA; CLEFT LIP; CLEFT PALATE; CRANIOFACIAL DEVELOPMENT; CRANIOFACIAL SYNOSTOSIS; DNA MODIFICATION; GENE MUTATION; HUMAN; HYPERTELORISM; HYPOGONADISM; KALLMANN SYNDROME; NONHUMAN; PRIORITY JOURNAL; REVIEW; RNA TRANSLATION; SIGNAL TRANSDUCTION; STRESS; SUMOYLATION; SYNDACTYLY;

CLEFT LIP; CLEFT PALATE; FACIAL BONES; FIBROBLAST GROWTH FACTORS; HETEROZYGOTE; HUMANS; MODELS, BIOLOGICAL; PROTEIN PROCESSING, POST-TRANSLATIONAL; SIGNAL TRANSDUCTION; SKULL; SUMO-1 PROTEIN;

EID: 36549047903     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2007.09.002     Document Type: Review

References (72)

1. Jugessur A., and Murray J.C. Orofacial clefting: recent insights into a complex trait. Curr. Opin. Genet. Dev. 15 (2005) 270-278
2. Murray J.C. Gene/environment causes of cleft lip and/or palate. Clin. Genet. 61 (2002) 248-256
3. Stanier P., and Moore G.E. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum. Mol. Genet. 13 (2004) R73-R81
4. Vieira A.R., et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 1 (2005) e64
5. Zucchero T.M., et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N. Engl. J. Med. 351 (2004) 769-780
6. Nie X., et al. FGF signalling in craniofacial development and developmental disorders. Oral Dis. 12 (2006) 102-111
7. Riley B.M., et al. Impaired FGF signaling contributes to cleft lip and palate. Proc. Natl. Acad. Sci. U. S. A. 104 (2007) 4512-4517
8. Alkuraya F.S., et al. SUMO1 haploinsufficiency leads to cleft lip and palate. Science 313 (2006) 1751
9. Andreou A.M., et al. TBX22 missense mutations found in X-linked cleft palate (CPX) patients affect DNA binding, sumoylation and transcriptional repression. Am. J. Hum. Genet. 81 (2007) 700-712
10. Jiang R., et al. Development of the upper lip: morphogenetic and molecular mechanisms. Dev. Dyn. 235 (2006) 1152-1166
11. Gritli-Linde A. Molecular control of secondary palate development. Dev. Biol. 301 (2007) 309-326
12. Knecht A.K., and Bronner-Fraser M. Induction of the neural crest: a multigene process. Nat. Rev. Genet. 3 (2002) 453-461
13. Ibrahimi O.A., et al. 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 (2004) 69-78
14. Entesarian M., et al. Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat. Genet. 37 (2005) 125-127
15. Bachler M., and Neubuser A. Expression of members of the Fgf family and their receptors during midfacial development. Mech. Dev. 100 (2001) 313-316
16. Alappat S.R., et al. The cellular and molecular etiology of the cleft secondary palate in Fgf10 mutant mice. Dev. Biol. 277 (2005) 102-113
17. De Moerlooze L., et al. An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. Development 127 (2000) 483-492
18. Rice R., et al. Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate. J. Clin. Invest. 113 (2004) 1692-1700
19. Wilkie A.O., and Morriss-Kay G.M. Genetics of craniofacial development and malformation. Nat. Rev. Genet. 2 (2001) 458-468
20. Kreiborg S., and Cohen Jr. M.M. The oral manifestations of Apert syndrome. J. Craniofac. Genet. Dev. Biol. 12 (1992) 41-48
21. Dode C., and Hardelin J.P. Kallmann syndrome: fibroblast growth factor signaling insufficiency?. J. Mol. Med. 82 (2004) 725-734
22. Dode C., et al. 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 (2007) 97-98
23. Trokovic N., et al. Fgfr1 regulates patterning of the pharyngeal region. Genes Dev. 17 (2003) 141-153
24. Dode C., et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat. Genet. 33 (2003) 463-465
25. Abu-Issa R., et al. Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129 (2002) 4613-4625
26. Albertson R.C., and Yelick P.C. Fgf8 haploinsufficiency results in distinct craniofacial defects in adult zebrafish. Dev. Biol. 306 (2007) 505-515
27. Seeler J.S., and Dejean A. Nuclear and unclear functions of SUMO. Nat. Rev. Mol. Cell Biol. 4 (2003) 690-699
28. FitzPatrick D.R., et al. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum. Mol. Genet. 12 (2003) 2491-2501
29. Leoyklang P., et al. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum. Mutat. 28 (2007) 732-738
30. Dobreva G., et al. SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. Cell 125 (2006) 971-986
31. Modesto A., et al. MSX1 and orofacial clefting with and without tooth agenesis. J. Dent. Res. 85 (2006) 542-546
32. Satokata I., and Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat. Genet. 6 (1994) 348-356
33. Lidral A.C., and Moreno L.M. Progress toward discerning the genetics of cleft lip. Curr. Opin. Pediatr. 17 (2005) 731-739
34. Jezewski P.A., et al. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J. Med. Genet. 40 (2003) 399-407
35. Gupta V., and Bei M. Modification of Msx1 by SUMO-1. Biochem. Biophys. Res. Commun. 345 (2006) 74-77
36. Lee H., et al. PIAS1 confers DNA-binding specificity on the Msx1 homeoprotein. Genes Dev. 20 (2006) 784-794
37. Ghioni P., et al. The protein stability and transcriptional activity of p63alpha are regulated by SUMO-1 conjugation. Cell Cycle 4 (2005) 183-190
38. Mills A.A., et al. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 398 (1999) 708-713
39. Yang A., et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398 (1999) 714-718
40. Rinne T., et al. p63-associated disorders. Cell Cycle 6 (2007) 262-268
41. Huang Y.P., et al. Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. Cell Cycle 3 (2004) 1587-1596
42. Braybrook C., et al. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat. Genet. 29 (2001) 179-183
43. Marcano A.C., et al. TBX22 mutations are a frequent cause of cleft palate. J. Med. Genet. 41 (2004) 68-74
44. Kaiser F.J., et al. SUMOylation modulates transcriptional repression by TRPS1. Biol. Chem. 388 (2007) 381-390
45. Momeni P., et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat. Genet. 24 (2000) 71-74
46. Malik T.H., et al. 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 (2002) 8592-8600
47. Tsuruzoe S., et al. Inhibition of DNA binding of Sox2 by the SUMO conjugation. Biochem. Biophys. Res. Commun. 351 (2006) 920-926
48. Taylor K.M., and Labonne C. SoxE factors function equivalently during neural crest and inner ear development and their activity is regulated by SUMOylation. Dev. Cell 9 (2005) 593-603
49. Lin X., et al. Activation of transforming growth factor-beta signaling by SUMO-1 modification of tumor suppressor Smad4/DPC4. J. Biol. Chem. 278 (2003) 18714-18719
50. Wyszynski D.F., et al. Genetics of nonsyndromic oral clefts revisited. Cleft Palate J. 33 (1996) 406-417
51. Chakravarti A., and Little P. Nature, nurture and human disease. Nature 421 (2003) 412-414
52. Shi M., et al. Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. Am. J. Hum. Genet. 80 (2007) 76-90
53. Bossis G., and Melchior F. Regulation of SUMOylation by reversible oxidation of SUMO conjugating enzymes. Mol. Cell 21 (2006) 349-357
54. Sramko M., et al. Stress-induced inactivation of the c-Myb transcription factor through conjugation of SUMO-2/3 proteins. J. Biol. Chem. 281 (2006) 40065-40075
55. Mouta C.C., et al. The comparative release of FGF1 by hypoxia and temperature stress. Growth Factors 18 (2001) 277-285
56. Ganat Y., et al. 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 (2002) 977-991
57. Battersby A., et al. 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 (2003) 479-493
58. Deng C.X., et al. Murine FGFR-1 is required for early postimplantation growth and axial organization. Genes Dev. 8 (1994) 3045-3057
59. Passos-Bueno M.R., et al. Clinical spectrum of fibroblast growth factor receptor mutations. Hum. Mutat. 14 (1999) 115-125
60. Eswarakumar V.P., et al. A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 12555-12560
61. Moon A.M., and Capecchi M.R. Fgf8 is required for outgrowth and patterning of the limbs. Nat. Genet. 26 (2000) 455-459
62. Britanova O., et al. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Am. J. Hum. Genet. 79 (2006) 668-678
63. Peters H., et al. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 12 (1998) 2735-2747
64. Britto J.A., et al. 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 (2002) 332-340
65. Itoh N., and Ornitz D.M. Evolution of the Fgf and Fgfr gene families. Trends Genet. 20 (2004) 563-569
66. Ornitz D.M., and Itoh N. Fibroblast growth factors. Genome Biol. 2 (2001) REVIEWS3005
67. Johnson E.S. Protein modification by SUMO. Annu. Rev. Biochem. 73 (2004) 355-382
68. Gill G. Something about SUMO inhibits transcription. Curr. Opin. Genet. Dev. 15 (2005) 536-541
69. Braybrook C., et al. Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. Hum. Mol. Genet. 11 (2002) 2793-2804
70. Zhang Z., et al. 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 (2002) 4135-4146
71. Rinne T., et al. Pattern of p63 mutations and their phenotypes-update. Am. J. Med. Genet. A. 140 (2006) 1396-1406
72. Chaabouni M., et al. Mutation analysis of TBX22 reveals new mutation in Tunesian CPX family. Clin. Dysmorphol. 14 (2005) 23-25