Molecular determinants of neural crest migration

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 97, Issue 4, 2000, Pages 280-288

  Maschhoff, Kathryn L ^b   Baldwin, H Scott ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b NONE

Author keywords

Cadherins; Cardiovascular malformations; Connexin 43; Conotruncal defects; Deletion 22q11 spectrum; DiGeorge syndrome; Endothelin; Integrins; Neural crest; Outflow tract defects; Pax3; Retinoic acid

Indexed keywords

CELL ADHESION MOLECULE; CONNEXIN 43; ENDOTHELIN; INTEGRIN; PLATELET DERIVED GROWTH FACTOR; RETINOIC ACID;

CARDIOVASCULAR MALFORMATION; CELL COMMUNICATION; CELL DIFFERENTIATION; CELL INTERACTION; CELL MIGRATION; CHROMOSOME 22Q; DIGEORGE SYNDROME; EXTRACELLULAR MATRIX; GAP JUNCTION; HEART OUTFLOW TRACT OBSTRUCTION; NEURAL CREST; PRIORITY JOURNAL; REVIEW; RHOMBENCEPHALON;

ANIMALS; AORTA; CELL ADHESION MOLECULES; CELL MOVEMENT; CHICK EMBRYO; CHROMOSOMES, HUMAN, PAIR 22; CONNEXIN 43; DIGEORGE SYNDROME; DNA-BINDING PROTEINS; ENDOTHELIN-1; EXTRACELLULAR MATRIX PROTEINS; GAP JUNCTIONS; GROWTH SUBSTANCES; HEART; HUMANS; MICE; MICE, KNOCKOUT; MICE, MUTANT STRAINS; NEURAL CREST; NEURAL TUBE DEFECTS; NEUROTROPHIN 3; PAIRED BOX TRANSCRIPTION FACTORS; RECEPTORS, GROWTH FACTOR; RECEPTORS, RETINOIC ACID; TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 0034444312     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(200024)97:4<280::AID-AJMG1278>3.0.CO;2-N     Document Type: Review

References (71)

1. Botta A, Lindsay EA, Jurecic V, Baldini A. 1997. Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation [published erratum appears in Mamm Genome 1998;9(4):344]. Mamm Genome 8:890-895.
2. Brand M, Le Moullec JM, Corvol P, Gasc JM. 1998. Ontogeny of enduthelins-1 and -3, their receptors, and endothelin converting enzyme-1 in the early human embryo. J Clin Invest 101:549-559.
3. Britz-Cunningham SH, Shah MM, Zuppati CW, Fletcher WH. 1995. Mutations of the connexin 43 gap-junction gene in patients with heart malformations and defects of laterality [see Comments]. N Engl J Med 332:1323-1329.
4. Chambon P. 1996. A decade of molecular biology of retinoic acid receptors. FASEB J 10:940-954.
5. Clouthier DE, Hosoda K, Richardson JA, Williams SC, Yanagisawa H, Kuwaki T, Kumada M, Hammer RE, Yanagisawa M. 1998. Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 125:813-824.
6. Conway SJ, Bundy J, Chen J, Dickman E, Rogers R, Will BM. 2000. Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the splotch (Sp(2H))/Pax3 mouse mutant [see Comments]. Cardiovasc Res 47:314-328.
7. Conway SJ, Henderson DJ, Kirby ML, Anderson RH, Copp AJ. 1997. Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse. Cardiovasc Res 36:163-173.
8. Creazzo TL, Godt RE, Leatherbury L, Conway SJ, Kirby ML. 1998. Role of cardiac neural crest cells in cardiovascular development. Annu Rev Physiol 60:267-286.
9. Davis EM, Trinkaus JP. 1981. Significance of cell-to-cell contacts for the directional movement of neural crest cells within a hydrated collagen lattice. J Embryol Exp Morphol 63:29-51.
10. De Arcangelis A, Georges-Labouesse E. 2000. Integrin and ECM functions: roles in vertebrate development. Trends Genet 16: 389-395.
11. Delannet M, Martin F, Bossy B, Cheresh DA, Reichardt LF, Duband JL. 1994. Specific roles of the alpha V beta 1, alpha V beta 3 and alpha V beta 5 integrins in avian neural crest cell adhesion and migration on vitronectin. Development 120:2687-2702.
12. Desban N, Duband JL. 1997. Avian neural crest cell migration on laminin: interaction of the alpha1beta1 integrin with distinct laminin-1 domains mediates different adhesive responses. J Cell Sci 110:2729-2744.
13. Donovan MJ, Hahn R, Tessarollo L, Hempstead BL. 1996. Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac development. Nat Genet 14:210-213.
14. Epstein JA, Li J, Lang D, Chen F, Brown CB, Jin F, Lu MM, Thomas M, Liu E, Wessels A, Lo CW. 2000. Migration of cardiac neural crest cells in Splotch embryos. Development 127:1869-1878.
15. Epstein JA, Shapiro DN, Cheng J, Lam PY, Maas RL. 1996. Pax3 modulates expression of the c-Met receptor during limb muscle development. Proc Natl Acad Sci U S A 93:4213-4218.
16. Ewart JL, Cohen MF, Meyer RA, Huang GY, Wessels A, Gourdie RG, Chin AJ, Park SM, Lazatin BO, Villabon S, Lo CW. 1997. Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene. Development 124:1281-1292.
17. Farrell MJ, Stadt H, Wallis KT, Scambler P, Hixon RL, Wolfe R, Leatherbury L, Kirby ML. 1999. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ Res 84:127-135.
18. Gahli N, Baldwin HS, Lund J, Reeves R, Gong W, Wang Z, Roe BA, Emanuel BS, Nayak S, Mickanin C, Budarf MI, Buck CA. 1997. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Genome Res 7:399.
19. Ghyselinck NB, Wendling O, Messaddeq N, Dierich A, Lampron C, Decimo D, Viville S, Chambon P, Mark M. 1998. Contribution of retinoic acid receptor beta isoforms to the formation of the conotruncal septum of the embryonic heart. Dev Biol 198:303-318.
20. Hiemisch H, Monaghan AP, Schutz G, Kaestner KH. 1998. Expression of the mouse Fkh1/ Mf1 and Mfh1 genes in late gestation embryos is restricted to mesoderm derivatives. Mech Dev 73:129-132.
21. Huang GY, Cooper ES, Waldo K, Kirby ML, Gilula NB, Lo CW. 1998a. Gap junction-mediated cell-cell communication modulates mouse neural crest migration. J Cell Biol 143:1725-1734.
22. Huang GY, Wessels A, Smith BR, Linask KK, Ewart JL, Lo CW. 1998b. Alteration in connexin 43 gap junction gene dosage impairs conotruncal heart development. Dev Biol 198:32-44.
23. Hynes RO. 1996. Targeted mutations in cell adhesion genes: What have we learned from them? Dev Biol 180:402-412.
24. Iida K, Koseki H, Kakinuma H, Kato N, Mizutani-Koseki Y, Ohuchi H, Yoshioka H, Noji S, Kawamura K, Kataoka Y, Ueno F, Taniguchi M, Yoshida N, Sugiyama T, Miura N. 1997. Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124:4627-4638.
25. Jiang X, Rowitch DH, Soriano P, McMahon AP, Sucov HM. 2000. Fate of the mammalian cardiac neural crest. Development 127:1607-1616.
26. Kil SH, Krull CE, Cann G, Clegg D, Bronner-Fraser M. 1998. The alpha4 subunit of integrin is important for neural crest cell migration. Dev Biol 202:29-42.
27. Kil SH, Lallier T, Bronner-Fraser M. 1996. Inhibition of cranial neural crest adhesion in vitro and migration in vivo using integrin antisense oligonucleotides. Dev Biol 179:91-101.
28. Kirby ML, Gale TF, Stewart DE. 1983. Neural crest cells contribute to normal aorticopulmonary septation. Science 220:1059-1061.
29. Kirby ML, Turnage KLD, Hays BM. 1985. Characterization of conotruncal malformations following ablation of "cardiac" neural crest. Anat Rec 213:87-93.
30. Kurihara Y, Kurihara H, Oda H, Maemura K, Nagai R, Ishikawa T, Yazaki Y. 1995. Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1 [see Comments]. J Clin Invest 96:293-300.
31. Lee RY, Luo J, Evans RM, Giguere V, Sucov HM. 1997. Compartment-selective sensitivity of cardiovascular morphogenesis to combinations or retinoic acid receptor gene mutations. Circ Res 80:757-764.
32. Li J, Liu KC, Jin F, Lu MM, Epstein JA. 1999. Transgenic rescue of congenital heart disease and spina bifida in Splotch mice. Development 126:2495-2503.
33. Lin MI, Das I, Schwartz GM, Tsoulfas P, Mikawa T, Hempstead BL. 2000. Trk C receptor signaling regulates cardiac myocyte proliferation during early heart development in vivo [In Process Citation]. Dev Biol 226:180-191.
34. Lindsay EA, Botta A, Jurecic V, Carattini-Rivera S, Cheah YC, Rosenblatt HM, Bradley A, Baldini A. 1999. Congenital heart disease in mice deficient for the DiGeorge syndrome region [see Comments]. Nature 401:379-383.
35. Lo CW, Cohen MF, Huang GY, Lazatin BO, Patel N, Sullivan R, Pauken C, Park SM. 1997. Cx43 gap junction gene expression and gap junctional communication in mouse neural crest cells. Dev Genet 20:119-132.
36. Lund J, Roe B, Chen F, Budarf M, Galili N, Riblet R, Miller RD, Emanuel BS, Reeves RH. 1999. Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2. Mamm Genome 10:438-443.
37. Magnaghi P, Roberts C, Lorain S, Lipinski M. Scambler PJ. 1998. HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3. Nat Genet 20:74-77.
38. Mangelsdorf DJ, Evans RM. 1995. The RXR heterodimers and orphan receptors. Cell 83:841-850.
39. Mathieu M, Bourges E, Caron F, Piussan C. 1990. [Waardenburg's syndrome and severe cyanotic cardiopathy]. Arch Fr Pediatr 47:657-659.
40. Mendelsohn C, Lohnes D, Decimo D, Lutkin T, LeMeur M, Chambon P, Mark M. 1994. Function of the retinoic acid receptors (RARs) during development. II. Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development 120:2749-2771.
41. Morrison-Graham K, Schatteman GC, Bork T, Bowen-Pope DF, Weston JA. 1992. A PDGF receptor mutation in the mouse (Patch) perturbs the development of a non-neuronal subset of neural crest-derived cells. Development 115:133-142.
42. Nakagawa S, Takeichi M. 1995. Neural crest cell-cell adhesion controlled by sequential and subpopulation-specific expression of novel cadherins. Development 121:1321-1332.
43. Nakagawa S, Takeichi M. 1998. Neural crest emigration from the neural tube depends on regulated cadherin expression. Development 125:2963-2971.
44. Nataf V, Grapin-Botton A, Champeval D, Amemiya A, Yanagisawa M, Le Douarin NM. 1998. The expression patterns of endothelin-A receptor and endothelin 1 in the avian embryo. Mech Dev 75:145-149.
45. Nataf V, Lecoin L, Eichmann A, Le Douarin NM. 1996. Endothelin-B receptor is expressed by neural crest cells in the avian embryo. Proc Natl Acad Sci U S A 93:9645-9650.
46. Phillips MT, Kirby ML, Forbes G. 1987. Analysis of cranial neural crest distribution in the developing heart using quail-chick chimeras. Circ Res 60:27-30.
47. Puech A, Saint-Jore B, Merscher S, Russell RG, Cherif D, Sirotkin H, Xu H, Factor S, Kucherlapati R, Skoultchi AI. 2000. Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. Proc Natl Acad Sci U S A 97:10090-10095.
48. Radice GL, Rayburn H, Matsunami H, Knudsen KA, Takeichi M, Hynes RO. 1997. Developmental defects in mouse embryos lacking N-cadherin. Dev Biol 181:64-78.
49. Reaume AG, de Sousa PA, Kulkarni S, Langille BL, Zhu D, Davies TC, Juneja SC, Kidder GM, Rossant J. 1995. Cardiac malformation in neonatal mice lacking connexin 43 [see Comments]. Science 267:1831-1834.
50. Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS. 1999. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects [Letter]. Am J Hum Genet 65:562-566.
51. Schatteman GC, Morrison-Graham K, van Koppen A, Weston JA, Bowen-Pope DF. 1992. Regulation and role of PDGF receptor alpha-subunit expression during embryogenesis. Development 115:123-131.
52. Schatteman GC, Motley ST, Effmann EL, Bowen-Pope DF. 1995. Platelet-derived growth factor receptor alpha subunit deleted Patch mouse exhibits severe cardiovascular dysmorphogenesis. Teratology 51:351-366.
53. Serbedzija GN, McMahon AP. 1997. Analysis of neural crest cell migration in Splotch mice using a neural crest-specific LacZ reporter. Dev Biol 185:139-147.
54. Soriano P. 1997. The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites. Development 124:2691-2700.
55. Sullivan R, Huang GY, Meyer RA, Wessels A, Linask KK, Lo CW. 1998. Heart malformations in transgenic mice exhibiting dominant negative inhibition of gap junctional communication in neural crest cells. Dev Biol 204:224-234.
56. Testaz S, Delannet M, Duband J. 1999. Adhesion and migration of avian neural crest cells on fibronectin require the cooperating activities of multiple integrins of the (beta)1 and (beta)3 families. J Cell Sci 112:4715-4728.
57. Thiery JP, Duband JL, Rutishauser U, Edelman GM. 1982. Cell adhesion molecules in early chicken embryogenesis. Proc Natl Acad Sci U S A 79:6737-6741.
58. Thomas T, Kurihara H, Yamagishi H, Kurihara Y, Yazaki Y, Olson EN, Srivastava D. 1998. A signaling cascade involving endothelin-1, dHAND and msx1 regulates development ot neural-crest-derived branchial arch mesenchyme. Development 125:3005-3014.
59. Van Mierop LH, Kutsche LM. 1986. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 58:133-137.
60. Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I, Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G, Scambler P. 1999. Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11 [Letter]. Am J Hum Genet 65:247-249.
61. Waldo K, Zdanowicz M, Burch J, Kumiski DH, Stadt HA, Godt RE, Creazzo TL, Kirby ML. 1999a. A novel role for cardiac neural crest in heart development. J Clin Invest 103:1499-1507.
62. Waldo KL, Kumiski D, Kirby ML. 1996. Cardiac neural crest is essential for the persistence rather than the formation of an arch artery. Dev Dyn 205:281-292.
63. Waldo KL, Lo CW, Kirby ML. 1999b. Connexin 43 expression reflects neural crest patterns during cardiovascular development. Dev Biol 208:307-323.
64. Wilson JG, Roth CB, Warkany J. 1953. An analysis of the syndrome of malformations induced by vitamin A deficiency: effects of restoration of vitamin A at various times during gestation. Am J Anat 92: 189-217.
65. Wilson JG, Warkany J. 1948. Aortic-arch and cardiac anomalies in the offspring of vitamin A deficient rats. Am J Anat 85:113-155.
66. Winnier GE, Kume T, Deng K, Rogers R, Bundy J, Raines C, Walter MA, Hogan BL, Conway SJ. 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.
67. Ya J, Erdtsieck-Ernste EB, de Boer PA, van Kempen MJ, Jongsma H, Gros D, Moorman AF, Lamers WH. 1998. Heart defects in connexin 43-deficient mice. Circ Res 82:360-366.
68. Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. 1999. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects [see Comments]. Science 283:1158-1161.
69. Yanagisawa H, Hammer RE, Richardson JA, Emoto N, Williams SC, Takeda S, Clouthier DE, Yanagisawa M. 2000. Disruption of ECE-1 and ECE-2 reveals a role for endothelin-converting enzyme-2 in murine cardiac development. J Clin Invest 105: 1373-1382.
70. Yanagisawa H, Hammer RE, Richardson JA, Williams SC, Clouthier DE, Yanagisawa M. 1998a. Role of endothelin-1/endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice [see Comments]. J Clin Invest 102:22-33.
71. Yanagisawa H, Yanagisawa M, Kapur RP, Richardson JA, Williams SC, Clouthier DE, de Wit D, Emoto N, Hammer RE. 1998b. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125: 825-836.