Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome

Trends in Molecular Medicine

Volumn 9, Issue 9, 2003, Pages 383-389

  Yamagishi, Hiroyuki ^a   Srivastava, Deepak ^b  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR 8; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR;

AORTA ARCH; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL BIOLOGY; DIGEORGE SYNDROME; ENDODERM; GENE; GENE CONTROL; GENOTYPE; HEART DEVELOPMENT; HUMAN; INCIDENCE; MESENCHYME; MESODERM; MOLECULAR GENETICS; MORTALITY; NEURAL CREST; NONHUMAN; PHARYNX; PHENOTYPE; PROTEIN EXPRESSION; REVIEW;

ERINACEIDAE;

EID: 0141458167     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1471-4914(03)00141-2     Document Type: Review

References (63)

1. Lindsay, E.A. and Baldini, A. (1998) Congenital heart defects and 22q11 deletions: which genes count? Mol. Med. Today 4, 350-357
2. Yamagishi, H. (2002) The 22q11.2 deletion syndrome, Keio J. Med. 51, 77-88
3. Lindsay, E.A. (2001) Chromosome microdeletions: dissecting de122q11 syndrome. Nat. Rev. Genet. 2, 858-868
4. Shaikh, T.H. et al. (2000) Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum. Mol. Genet. 9, 489-501
5. Lindsay, E.A. et al. (1995) Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. Am. J. Med. Genet. 56, 191-197
6. Gong, W. et al. (1996) A transcription map of the DiGeorge and velocardio-facial syndrome minimal critical region on 22q11. Hum. Mol. Genet. 5, 789-800
7. Carlson, C. et al. (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am. J. Hum. Genet. 61, 620-629
8. Matsuoka, R. et al. (1998) Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum. Genet. 103, 70-80
9. Yamagishi, H. et al. (1998) Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am. J. Med. Genet. 78, 319-321
10. Graham, A. and Smith, A. (2001) Patterning the pharyngeal arches. Bioessays 23, 54-61
11. Kirby, M.L. and Waldo, K.L. (1995) Neural crest and cardiovascular patterning. Circ. Res. 77, 211-215
12. Epstein, D.J. et al. (1991) Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67, 767-774
13. Kurihara, Y. et al. (1995) Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1. J. Clin. Invest. 96, 293-300
14. Thomas, T. et al. (1998) A signaling cascade involving endothelin-1, dHAND and msx1 regulates development of neural-crest-derived branchial arch mesenchyme. Development 125, 3005-3014
15. Lamour, V. et al. (1995) A human homolog of the S. cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region. Hum. Mol. Genet. 4, 791-799
16. Wilming, L.G. et al. (1997) The murine homologue of HIRA, a DiGeorge syndrome candidate gene, is expressed in embryonic structures affected in human CATCH22 patients. Hum. Mol. Genet. 6, 247-258
17. Roberts, C. et al. (1997) Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiGeorge syndrome. Hum. Mol. Genet. 6, 237-245
18. Farrell, M.J. et al. (1999) HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ. Res. 84, 127-135
19. Pizzuti, A. et al. (1997) UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum. Mol. Genet. 6, 259-265
20. Yamagishi, H. et al. (1999) A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283, 1158-1161
21. Yamagishi, C. et al. (2003) Functional attenuation of Ufd11, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos. Pediatr. Res. 53, 546-553
22. Lindsay, E.A. et al. (1999) Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401, 379-383
23. Lindsay, E.A. et al. (2001) Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410, 97-101
24. Guris, D.L. et al. (2001) Mice lacking the homologue of the human 22q11. 2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat. Genet. 27, 293-298
25. Merscher, S. et al. (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104, 619-629
26. Jerome, L.A. and Papaioannou, V.E. (2001) DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 27, 286-291
27. Chapman, D.L. et al. (1996) Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev. Dyn. 206, 379-390
28. Garg, V. et al. (2001) Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev. Biol. 235, 62-73
29. Trumpp, A. et al. (1999) Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch. Genes Dev. 13, 3136-3148
30. Wendling, O. et al. (2000) Retinoid signaling is essential for patterning the endoderm of the third and fourth pharyngeal arches. Development 127, 1553-1562
31. Schneider, R.A. and Helms, J.A. (2003) The cellular and molecular origins of beak morphology. Science 299, 565-568
32. Abu-Issa, R. et al. (2002) Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse. Development 129, 4613-4625
33. Frank, D.U. et al. (2002) An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development 129, 4591-4603
34. Vitelli, F. et al. (2002) A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129, 4605-4611
35. Farrell, M.J. et al. (2001) FGF-8 in the ventral pharynx alters development of myocardial calcium transients after neural crest ablation. J. Clin. Invest. 107, 1509-1517
36. Schneider, R.A. et al. (2001) Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH. Development 128, 2755-2767
37. Alsan, B.H. and Schultheiss, T.M. (2002) Regulation of avian cardiogenesis by Fgf8 signaling. Development 129, 1935-1943
38. Reifers, F. et al. (2000) Induction and differentiation of the zebrafish heart requires fibroblast growth factor 8 (fgf8/acerebellar). Development 127, 225-235
39. Vitelli, F. et al. (2002) Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways. Hum. Mol. Genet. 11, 915-922
40. Kochilas, L. et al. (2002) The role of neural crest during cardiac development in a mouse model of DiGeorge syndrome. Dev. Biol. 251, 157-166
41. Mjaatvedt, C.H. et al. (2001) The outflow tract of the heart is recruited from a novel heart-forming field. Dev. Biol. 238, 97-109
42. Waldo, K.L. et al. (2001) Conotruncal myocardium arises from a secondary heart field. Development 128, 3179-3188
43. Kelly, R. G. et al. (2001) The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm. Dev. Cell 1, 435-440
44. Yamagishi, H. et al. (2003) Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 17, 269-281
45. Britto, J.M. et al. (2000) Life, death and Sonic hedgehog. Bioessays 22, 499-502
46. Chiang, C. et al. (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383, 407-413
47. Helms, J.A. et al. (1997) Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev. Biol. 187, 25-35
48. Kaufmann, E. and Knochel, W. (1996) Five years on the wings of fork head. Mech. Dev. 57, 3-20
49. Kaestner, K.H. et al. (2000) Unified nomenclature for the winged helix/ forkhead transcription factors. Genes Dev. 14, 142-146
50. Weinstein, D.C. et al. (1994) The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo. Cell 78, 575-588
51. Ang, S.L. and Rossant, J. (1994) HNF-3 beta is essential for node and notochord formation in mouse development. Cell 78, 561-574
52. Winnier, G.E. et al. (1997) The winged helix transcription factor MFH1 is required for proliferation and patterning of paraxial mesoderm in the mouse embryo. Genes Dev. 11, 926-940
53. Iida, K. et al. (1997) Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124, 4627-4638
54. Kume, T. et al. (1998) The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell 93, 985-996
55. Winnier, G.E. et al. (1999) Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev. Biol. 213, 418-431
56. Kume, T. et al. (2001) The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis. Genes Dev. 15, 2470-2482
57. Fang, I. et al. (2000) Mutations in FOXC2 (MFH-1). A forkhead family transcription factor, are responsible for the hereditary lymphedemadistichiasis syndrome. Am. J. Hum. Genet. 67, 1382-1388
58. Stalmans, I. et al. (2003) VEGF: A modifier of the de122q11 (DiGeorge) syndrome? Nat. Med. 9, 173-182
59. Lawson, N.D. et al. (2002) Sonic hedgehog and vascular endothelial growth factor act upstream of the Notch pathway during arterial endothelial differentiation. Dev. Cell 3, 127-136
60. Gong, W. et al. (2001) Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J. Med. Genet. 38, E45
61. Gogos, J.A. et al. (1998) Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc. Natl. Acad. Sci. U. S. A. 95, 9991-9996
62. Gogos, J.A. et al. (1999) The gene encoding proline dehydrogenase modulates sensorimotor gating in mice. Nat. Genet. 21, 434-439
63. Paylor, R. et al. (2001) Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments. Hum. Mol. Genet. 10, 2645-2650