Model systems for the study of heart development and disease

Seminars in Cell & Developmental Biology - Tập 18 - Trang 101-110 - 2007
Mary R. Hutson1, Margaret L. Kirby1
1Department of Pediatrics, Bell Building, Room 157, Neonatology, Box 3179, Duke University Medical Center, Durham, NC 27710, United States

Tài liệu tham khảo

Horstadius, 1950 Le Douarin, 1999 Kirby, 1985, Characterization of conotruncal malformations following ablation of “cardiac” neural crest, Anat Rec, 213, 87, 10.1002/ar.1092130112 Suzuki, 1997, Absence of neural crest cell regeneration from the postotic neural tube, Dev Biol, 184, 222, 10.1006/dbio.1997.8529 Bockman, 1984, Dependence of thymus development on derivatives of the neural crest, Science, 223, 498, 10.1126/science.6606851 Le Lievre, 1975, Mesenchymal derivatives of the neural crest. Analysis of chimaeric quail and chick embryos, J Embryol Exp Morphol, 34, 125 Kirby, 1983, Neural crest cells contribute to aorticopulmonary septation, Science, 220, 1059, 10.1126/science.6844926 Waldo, 1999, Connexin 43 expression reflects neural crest patterns during cardiovascular development, Dev Biol, 208, 307, 10.1006/dbio.1999.9219 Nakamura, 2006, Neural crest cells retain multipotential characteristics in the developing valves and label the cardiac conduction system, Circ Res, 98, 1547, 10.1161/01.RES.0000227505.19472.69 Kirby, 1983, Neural crest origin of cardiac ganglion cells in the chick embryo: identification and extirpation, Dev Biol, 97, 433, 10.1016/0012-1606(83)90100-8 Poelmann, 1999, A subpopulation of apoptosis-prone cardiac neural crest cells targets to the venous pole: multiple functions in heart development, Dev Biol, 207, 271, 10.1006/dbio.1998.9166 Steventon, 2005, Genetic network during neural crest induction: from cell specification to cell survival, Semin Cell Dev Biol, 16, 647, 10.1016/j.semcdb.2005.06.001 Burstyn-Cohen, 2002, Association between the cell cycle and neural crest delamination through specific regulation of G1/S transition, Dev Cell, 3, 383, 10.1016/S1534-5807(02)00221-6 Hutson, 2003, Neural crest and cardiovascular development: a 20-year perspective, Birth Defects Res, Part C Embryo Today, 69, 2, 10.1002/bdrc.10002 Nishibatake, 1987, Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation, Circulation, 75, 255, 10.1161/01.CIR.75.1.255 Yelbuz, 2002, Shortened outflow tract leads to altered cardiac looping after neural crest ablation, Circulation, 106, 504, 10.1161/01.CIR.0000023044.44974.8A Phillips, 1987, Analysis of cranial neural crest distribution in the developing heart using quail-chick chimeras, Circ Res, 60, 27, 10.1161/01.RES.60.1.27 Miyagawa-Tomita, 1991, Temporospatial study of the migration and distribution of cardiac neural crest in quail-chick chimeras, Am J Anat, 192, 79, 10.1002/aja.1001920109 Waldo, 1998, Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract: aortic sac to ventricular septal closure, Dev Biol, 196, 129, 10.1006/dbio.1998.8860 Fukiishi YMorriss-Kay, 1992, Migration of cranial neural crest cells to the pharyngeal arches and heart in rat embryos, Cell Tissue Res, 268, 1, 10.1007/BF00338048 Lo, 1997, Cx43 gap junction gene expression and gap junctional communication in mouse neural crest cells, Dev Genet, 20, 119, 10.1002/(SICI)1520-6408(1997)20:2<119::AID-DVG5>3.0.CO;2-A Brown, 2001, PlexinA2 and semaphorin signaling during cardiac neural crest development, Development, 128, 3071, 10.1242/dev.128.16.3071 Jiang, 2000, Fate of the mammalian cardiac neural crest, Development, 127, 1607, 10.1242/dev.127.8.1607 Lee, 1997, P0 is constitutively expressed in the rat neural crest and embryonic nerves and is negatively and positively regulated by axons to generate non-myelin-forming and myelin-forming Schwann cells, respectively, Mol Cell Neurosci, 8, 336, 10.1006/mcne.1996.0589 Sato MYost, 2003, Cardiac neural crest contributes to cardiomyogenesis in zebrafish, Dev Biol, 257, 127, 10.1016/S0012-1606(03)00037-X Li, 2003, Cardiac neural crest in zebrafish embryos contributes to myocardial cell lineage and early heart function, Dev Dyn, 226, 540, 10.1002/dvdy.10264 Waldo, 2005, Secondary heart field contributes myocardium and smooth muscle to the arterial pole of the developing heart, Dev Biol, 281, 78, 10.1016/j.ydbio.2005.02.012 Waldo, 2005, Cardiac neural crest is necessary for normal addition of the myocardium to the arterial pole from the secondary heart field, Dev Biol, 281, 66, 10.1016/j.ydbio.2005.02.011 Hutson, 2006, Cardiac arterial pole alignment is sensitive to FGF8 signaling in the pharynx, Dev Biol, 295, 486, 10.1016/j.ydbio.2006.02.052 Bockman, 1987, Effect of neural crest ablation on development of the heart and arch arteries in the chick, Am J Anat, 180, 332, 10.1002/aja.1001800403 Bockman, 1989, Alteration of early vascular development after ablation of cranial neural crest, Anat Rec, 225, 209, 10.1002/ar.1092250306 Waldo, 1996, Cardiac neural crest is essential for the persistence rather than the formation of an arch artery, Dev Dyn, 205, 281, 10.1002/(SICI)1097-0177(199603)205:3<281::AID-AJA8>3.0.CO;2-E Kuratani, 1991, Initial migration and distribution of the cardiac neural crest in the avian embryo: an introduction to the concept of the circumpharyngeal crest, Am J Anat, 191, 215, 10.1002/aja.1001910302 Kuratani, 1992, Migration and distribution of circumpharyngeal crest cells in the chick embryo. Formation of the circumpharyngeal ridge and E/C8+ crest cells in the vertebrate head region, Anat Rec, 234, 263, 10.1002/ar.1092340213 Kurihara, 1995, Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1, J Clin Invest, 96, 293, 10.1172/JCI118033 Yanagisawa, 1998, Role of endothelin-1/endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice, J Clin Invest, 102, 22, 10.1172/JCI2698 Clouthier, 2003, Cell-autonomous and nonautonomous actions of endothelin-A receptor signaling in craniofacial and cardiovascular development, Dev Biol, 261, 506, 10.1016/S0012-1606(03)00128-3 Kempf, 1998, Pharmacological inactivation of the endothelin type A receptor in the early chick embryo: a model of mispatterning of the branchial arch derivatives, Development, 125, 4931, 10.1242/dev.125.24.4931 Ballard, 2002, Constitutive expression of preproendothelin in the cardiac neural crest selectively promotes expansion of the adventitia of the great vessels in vivo, Dev Biol, 251, 167, 10.1006/dbio.2002.0818 Clouthier, 2000, Signaling pathways crucial for craniofacial development revealed by endothelin-A receptor-deficient mice, Dev Biol, 217, 10, 10.1006/dbio.1999.9527 Charite, 2001, Role of Dlx6 in regulation of an endothelin-1-dependent, dHAND branchial arch enhancer, Genes Dev, 15, 3039, 10.1101/gad.931701 Lindsay, 2001, Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice, Nature, 410, 97, 10.1038/35065105 Yamagishi, 2003, Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer, Genes Dev, 17, 269, 10.1101/gad.1048903 Macatee, 2003, Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development, Development, 130, 6361, 10.1242/dev.00850 Leatherbury, 1990, Microcinephotography of the developing heart in neural crest-ablated chick embryos, Circulation, 81, 1047, 10.1161/01.CIR.81.3.1047 Leatherbury, 1991, Hemodynamic changes and compensatory mechanisms during early cardiogenesis after neural crest ablation in chick embryos, Pediatr Res, 30, 509, 10.1203/00006450-199112000-00002 Creazzo, 1998, Role of cardiac neural crest cells in cardiovascular development, Ann Rev Physiol, 60, 267, 10.1146/annurev.physiol.60.1.267 Farrell, 2001, FGF-8 in the ventral pharynx alters development of myocardial calcium transients after neural crest ablation, J Clin Invest, 107, 1509, 10.1172/JCI9317 Bamforth, 2001, Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator, Nat Genet, 29, 469, 10.1038/ng768 Brewer, 2002, Requirement for AP-2α in cardiac outflow tract morphogenesis, Mech Dev, 110, 139, 10.1016/S0925-4773(01)00579-2 Feiner, 2001, Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption, Development, 128, 3061, 10.1242/dev.128.16.3061 Conway, 1997, Neural crest is involved in development of abnormal myocardial function, J Mol Cell Cardiol, 29, 2675, 10.1006/jmcc.1997.0499 Conway, 1997, Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant, Development, 124, 505, 10.1242/dev.124.2.505 Conway, 1997, Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse, Cardiovasc Res, 36, 163, 10.1016/S0008-6363(97)00172-7 Epstein, 1996, Pax3, neural crest and cardiovascular development, Trends Cardiovasc Med, 6, 255, 10.1016/S1050-1738(96)00110-7 Franz, 1989, Persistent truncus arteriosus in the Splotch mutant mouse, Anat Embryol (Berl), 180, 457, 10.1007/BF00305120 Morrison-Graham, 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, 10.1242/dev.115.1.133 Auerbach, 1954, Analysis of the developmental effects of a lethal mutation in the house mouse, J Exp Zool, 127, 305, 10.1002/jez.1401270206 Epstein, 2000, Migration of cardiac neural crest cells in Splotch embryos, Development, 127, 1869, 10.1242/dev.127.9.1869 Kwang, 2002, Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest, Development, 129, 527, 10.1242/dev.129.2.527 Price, 2001, Cardiac defects associated with the absence of the platelet-derived growth factor alpha receptor in the Patch mouse, Microsc Microanal, 7, 56, 10.1007/S100050010061 Robbins, 1999, Diminished matrix metalloproteinase-2 (MMP-2) in ectomesenchyme-derived tissues of the Patch mutant mouse: regulation of MMP-2 by PDGF and effects on mesenchymal cell migration, Dev Biol, 212, 255, 10.1006/dbio.1999.9373 Chisaka, 1991, Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1.5, Nature, 350, 473, 10.1038/350473a0 Kameda, 2002, Homeobox gene hoxa3 is essential for the formation of the carotid body in the mouse embryos, Dev Biol, 247, 197, 10.1006/dbio.2002.0689 Manley, 1995, The role of Hoxa-3 in mouse thymus and thyroid development, Development, 121, 1989, 10.1242/dev.121.7.1989 Kirby, 1997, Normal development of the cardiac outflow tract is not dependent on normal patterning of the aortic arch arteries, Dev Dyn, 208, 34, 10.1002/(SICI)1097-0177(199701)208:1<34::AID-AJA4>3.0.CO;2-2 Van Gijn, 2001, Frizzled 2 is transiently expressed in neural crest-containing areas during development of the heart and great arteries in the mouse, Anat Embryol (Berl), 203, 185, 10.1007/s004290000152 Hamblet, 2002, Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure, Dev Dis, 129, 5827 Stottmann, 2004, BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium, Development, 131, 2205, 10.1242/dev.01086 Kaartinen, 2004, Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells, Development, 131, 3481, 10.1242/dev.01214 Franco, 2003, The role of Pitx2 during cardiac development—linking left-right signaling and congenital heart diseases, Trends Cardiovasc Med, 13, 157, 10.1016/S1050-1738(03)00039-2 Kioussi, 2002, Identification of a Wnt/Dvl/beta-Catenin→Pitx2 pathway mediating cell-type-specific proliferation during development, Cell, 111, 673, 10.1016/S0092-8674(02)01084-X Liu, 2002, Pitx2c patterns anterior myocardium and aortic arch vessels and is required for local cell movement into atrioventricular cushions, Development, 129, 5081, 10.1242/dev.129.21.5081 Kawasaki, 1999, A requirement for neuropilin-1 in embryonic vessel formation, Development, 126, 4895, 10.1242/dev.126.21.4895 Lepore, 2006, GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis, J Clin Invest, 116, 929, 10.1172/JCI27363 Lo, 1999, Gap junction communication and the modulation of cardiac neural crest cells, Trends Cardiovasc Med, 9, 63, 10.1016/S1050-1738(99)00015-8 Reaume, 1995, Cardiac malformation in neonatal mice lacking connexin43, Science, 267, 1831, 10.1126/science.7892609 Huang, 1998, Gap junction-mediated cell–cell communication modulates mouse neural crest migration, J Cell Biol, 143, 1725, 10.1083/jcb.143.6.1725 Ewart, 1997, Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene, Development, 124, 1281, 10.1242/dev.124.7.1281 Liu, 2006, Distinct cardiac malformations caused by absence of connexin 43 in the neural crest and in the non-crest neural tube, Development, 133, 2063, 10.1242/dev.02374 Ya, 1998, Sox4-deficiency syndrome in mice is an animal model for common trunk, Circ Res, 83, 986, 10.1161/01.RES.83.10.986 Wang, 2004, Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation, Development, 131, 4477, 10.1242/dev.01287 Iida, 1997, Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis, Development, 124, 4627, 10.1242/dev.124.22.4627 Winnier, 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, 10.1006/dbio.1999.9382 Kume, 2001, The murine winged helix transcription factors, Foxc1 and Foxc2, are both required for cardiovascular development and somitogenesis, Genes Dev, 15, 2470, 10.1101/gad.907301 Seo, 2006, Forkhead transcription factors, Foxc1 and Foxc2, are required for the morphogenesis of the cardiac outflow tract, Dev Biol, 296, 421, 10.1016/j.ydbio.2006.06.012 Abu-Issa, 2002, Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse, Development, 129, 4613, 10.1242/dev.129.19.4613 Brown, 2004, Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse, Dev Biol, 267, 190, 10.1016/j.ydbio.2003.10.024 Jerome, 2001, DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1, Nature Genet, 27, 286, 10.1038/85845 Yagi, 2003, Role of TBX1 in human del22q11.2 syndrome, Lancet, 362, 1366, 10.1016/S0140-6736(03)14632-6 Xu, 2004, Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract, Development, 131, 3217, 10.1242/dev.01174 Yan, 1998, Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and “multidimensionally impaired”, Am J Med Genet, 81, 41, 10.1002/(SICI)1096-8628(19980207)81:1<41::AID-AJMG8>3.0.CO;2-Q Van Mierop, 1986, Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor, Am J Cardiol, 58, 133, 10.1016/0002-9149(86)90256-0 Shprintzen, 1978, A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome, Cleft Palate J, 15, 56 Xu, 2004, Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract, Development, 131, 3217, 10.1242/dev.01174 Garg, 2001, Tbx1, a DiGeorge syndrome candidate gene, is regulated by Sonic hedgehog during pharyngeal arch development, Dev Biol, 235, 62, 10.1006/dbio.2001.0283 Zhang, 2006, Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development, Development, 133, 3587, 10.1242/dev.02539 Hu, 2004, Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors, Development, 131, 5491, 10.1242/dev.01399 Vitelli, 2002, A genetic link between Tbx1 and fibroblast growth factor signaling, Development, 129, 4605, 10.1242/dev.129.19.4605 Nowotschin, 2006, Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field, Development, 133, 1565, 10.1242/dev.02309 Guris, 2006, Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome, Dev Cell, 10, 81, 10.1016/j.devcel.2005.12.002 Roberts, 2005, Retinoic acid down-regulates Tbx1 expression in vivo and in vitro, Dev Dyn, 232, 928, 10.1002/dvdy.20268 Stalmans, 2003, VEGF: a modifier of the del22q11 (DiGeorge) syndrome?, Nature Med, 9, 1, 10.1038/nm819 Guris, 2002, Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome, Nat Genet, 27, 293, 10.1038/85855 Moon, 2006, Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes, Dev Cell, 10, 71, 10.1016/j.devcel.2005.12.003 Kirby, 2007 Abu-Issa, 2004, Heart fields: one, two or more?, Dev Biol, 272, 281, 10.1016/j.ydbio.2004.05.016 Ward, 2005, Ablation of the secondary heart field leads to tetralogy of Fallot and pulmonary atresia, Dev Biol, 284, 72, 10.1016/j.ydbio.2005.05.003