Finally, a sense of closure? Animal models of human ventral body wall defects

BioEssays

Volumn 26, Issue 12, 2004, Pages 1307-1321

  Brewer, Stephanie ^a   Williams, Trevor ^a  

^a UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; BIRTH DEFECT; CONGENITAL MALFORMATION; EMBRYO DEVELOPMENT; EXPERIMENTATION; GENE IDENTIFICATION; GENETIC TRAIT; HUMAN; MOUSE; MUTATION; NONHUMAN; PATHOGENESIS; PHYSICAL DEVELOPMENT; REVIEW; VENTRAL BODY WALL DEFECT;

ABDOMINAL WALL; ANIMALS; EMBRYO; EMBRYONIC DEVELOPMENT; GASTROSCHISIS; HERNIA, UMBILICAL; HUMANS; MODELS, ANIMAL;

ANIMALIA;

EID: 10844278234     PISSN: 02659247     EISSN: None     Source Type: Journal    
DOI: 10.1002/bies.20137     Document Type: Review

References (117)

1. Candille SI, Raamsdonk CD, Chen C, Kuijper S, Chen-Tsai Y, et al. 2004. Dorsoventral Patterning of the Mouse Coat by Tbx15. PLoS Biol 2:E3.
2. Foley J, Dann P, Hong J, Cosgrove J, Dreyer B, et al. 2001. Parathyroid hormone-related protein maintains mammary epithelial fate and triggers nipple skin differentiation during embryonic breast development. Development 128:513-525.
3. Zhou P, Byrne C, Jacobs J, Fuchs E. 1995. Lymphoid enhancer factor 1 directs hair follicle patterning and epithelial cell fate. Genes Dev 9:700-713.
4. Hartwig NG, Vermeij-Keers C, De Vries HE, Kagie M, Kragt H. 1989. Limb body wall malformation complex: an embryologic etiology? Hum Pathol 20:1071-1077.
5. Hartwig NG, Steffelaar JW, Van de Kaa C, Schueler JA, Vermeij-Keers C. 1991. Abdominal wall defect associated with persistent cloaca. The embryologic clues in autopsy. Am J Clin Pathol 96:640-647.
6. Smits-van Prooije AE, Vermeij-Keers C, Poelmann RE, Mentink MM, Dubbe dam JA. 1988. The formation of mesoderm and mesectoderm in 5- to 41-somite rat embryos cultured in vitro, using WGA-Au as a marker. Anat Embryol (Berl) 177:245-256.
7. Grange DK, Arya S, Opitz JM, Laxova R, Herrmann J, et al. 1987. The short umbilical cord. Birth Defects Orig Artic Ser 23:191-214.
8. Moore KL. 1982. The Developing Human: clinically oriented embryology. Philadelphia: W.B. Saunders Co.
9. Vermeij-Keers C, Hartwig NG, van der Werff JF. 1996. Embryonic development of the ventral body wall and its congenital malformations. Semin Pediatr Surg 5:82-89.
10. Kaufman MH. 1992. The Atlas of Mouse Development. San Diego: Academic Press.
11. Kaufman MH, Bard JBL. 1999. The Anatomical Basis of Mouse Development. San Diego: Academic Press.
12. Brewer S, Williams T. 2004. Loss of AP-2α impacts multiple aspects of ventral body wall development and closure. Dev Biol 267:399-417.
13. Nottoli T, Hagopian-Donaldson S, Zhang J, Perkins A, Williams T. 1998. AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice. Proc Natl Acad Sci USA 95:13714-13719.
14. Russo R, D'Armiento M, Angrisani P, Vecchione R. 1993. Limb body wall complex: a critical review and a nosological proposal. Am J Med Genet 47:893-900.
15. Chen JM. 1952. Studies on the morphogenesis of the mouse sternum. I. Normal embryonic development. J Anat (London) 86:373-386.
16. Chen JM. 1953. Studies on the morphogenesis of the mouse sternum. III. Experiments on the closure and segmentation of the sternal band. J Anat 87:130-154.
17. Munger GT, Munger BL. 1991. Differentiation of the anterior body wall and truncal epidermis and associated co-migration of cutaneous nerves and mesenchyme. Anat Rec 231:261-274.
18. Glasser JG. 2001. Omphalocele and gastroschisis. eMedicine. http://www.emedicine.com/ped/topic1642.htm
19. Van Allen MI, Curry C, Gallagher L. 1987. Limb body wall complex: I. Pathogenesis. Am J Med Genet 28:529-548.
20. Colpaert C, Bogers J, Hertveldt K, Loquet P, Dumon J, et al. 2000. Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord. Pathol Res Pract 196:783-790.
21. Luebke HJ, Reiser CA, Pauli RM. 1990. Fetal disruptions: assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community-based stillbirth assessment program. Am J Med Genet 36:56-72.
22. Russo R, Vecchione R. 1996. Limb body wall complex: craniofacial defects as a distinctive factor. Birth Defects Orig Artic Ser 30:157-164.
23. Martinez-Frias ML. 1997. Epidemiological characteristics of amniotic band sequence (ABS) and body wall complex (BWC): are they two different entities? Am J Med Genet 73:176-179.
24. Luton D, Guibourdenche J, Vuillard E, Bruner J, de Lagausie P. 2003. Prenatal management of gastroschisis: the place of the amnioexchange procedure. Clin Perinatol 30:551-572, viii.
25. Achiron R, Soriano D, Lipitz S, Mashiach S, Goldman B, et al. 1995. Fetal midgut herniation into the umbilical cord: improved definition of ventral abdominal anomaly with the use of transvaginal sonography. Ultrasound Obstet Gynecol 6:256-260.
26. Gilbert-Barness E, Drut RM, Drut R, Grange DK, Opitz JM. 1993. Developmental abnormalities resulting in short umbilical cord. Birth Defects Orig Artic Ser 29:113-140.
27. Ferry JR Jr, Cohen P. 2002. Beckwith-Wiedemann Syndrome. eMedicine. http://www.emedicine.com/ped/topic218.htm
28. Maher ER, Reik W. 2000. Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 105:247-252.
29. Gage PJ, Camper SA. 1997. Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation. Hum Mol Genet 6:457-464.
30. Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, et al. 1996. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14:392-399.
31. Carmi R, Barbash A, Mares AJ. 1990. The thoracoabdominal syndrome (TAS): a new X-linked dominant disorder. Am J Med Genet 36:109-114.
32. Martin RA, Cunniff C, Erickson L, ones KL. 1992. Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. Am J Med Genet 42:839-841.
33. Parvari R, Weinstein Y, Ehrlich S, Steinitz M, Carmi R. 1994. Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26. Am J Med Genet 49:431-434.
34. Townsend CM Jr, Beauchamp RD, Evers BM, Mattox KL. 2001. Sabiston textbook of surgery: the biological basis of modern surgical practice. Philadelphia: W.B. Saunders Co.
35. Franceschini P, Guala A, Licata D, Botta G, Flora F, et al. 2003. Gershoni-Baruch syndrome: report of a new family confirming autosomal recessive inheritance. Am J Med Genet 122A:174-179.
36. Gershoni-Baruch R, Machoul I, Weiss Y, Blazer S. 1990. Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst. J Med Genet 27:403-404.
37. Shprintzen RJ, Goldberg RB. 1979. Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. Birth Defects Orig Artic Ser 15:347-353.
38. The California Birth Defects Monitoring Program. 1999. Gastroschisis and Medications, http://www.cbdmp.org/pdf/gastromedications.pdf
39. Torfs CP, Katz EA, Bateson TF, Lam PK, Curry CJ. 1996. Maternal medications and environmental exposures as risk factors for gastroschisis. Teratology 54:84-92.
40. Werter MM, Sheehan JE, Mitchell AA. 2002. Maternal Medication Use and Risks of Gastroschisis and Small Intestinal Atresia. Am J Epidemiol 155:26-31.
41. Haddow JE, Palomaki GE. Holman MS. 1993. Young maternal age and smoking during pregnancy as risk factors for gastroschisis. Teratology 47:225-228.
42. Haustein KO. 1999. Cigarette smoking, nicotine and pregnancy. Int J Clin Pharmacol Ther 37:417-427.
43. Torfs CP, Velie EM, Oechsli FW, Bateson TF, Curry CJ. 1994. A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology 50:44-53.
44. Texas Birth Defects Monitoring Division: Department of Health. 2002. Birth Defect Risk Factor Series: Gastroschisis. http://www.tdh.state.tx.us/ tbdmd/risk/risk4-gastroschisis.pdf.
45. Hillebrandt S, Streffer C, Montagutelli X, Balling R. 1998. A locus for radiation-induced gastroschisis on mouse Chromosome 7. Mamm Genome 9:995-997.
46. Barbieri O, Ognio E, Rossi O, Astigiano S, Rossi L. 1986. Embryotoxicity of benzo(a)pyrene and some of its synthetic derivatives in Swiss mice. Cancer Res 46:94-98.
47. Price CJ, Kimmel CA, George JD, Marr MC. 1987, The developmental toxicity of diethylene glycol dimethyl ether in mice. Fundam Appl Toxicol 8:115-126.
48. Rosenquist TH, Ratashak SA, Selhub J. 1996. Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. Proc Natl Acad Sci USA 93:15227-15232.
49. Rutledge JC, 1997. Developmental toxicity induced during early stages of mammalian embryogenesis. Mutat Res 396:113-127.
50. Thompson J, Bannigan J. 2001. Effects of cadmium on formation of the ventral body wall in chick embryos and their prevention by zinc pretreatment. Teratology 64:87-97.
51. Wei X, Sulik KK. 1993. Pathogenesis of craniofacial and body wall malformations induced by ochratoxin A in mice. Am J Med Genet 47:862-871.
52. Manner J, Seidl W, Heinicke F, Hesse H. 2003. Teratogenic effects of suramin on the chick embryo. Anat Embryol (Berl) 206:229-237.
53. Ong LL, Schardein JL, Petrere JA, Sakowski R, Jordan H, et al. 1983. Teratogenesis of calcium valproate in rats. Fundam Appl Toxicol 3:121-126.
54. Tellone CI, Baldwin JK, Sofia RD. 1980. Teratogenic activity in the mouse after oral administration of acetazolamide. Drug Chem Toxicol 3:83-98.
55. Yoshimura H. 2003. Effect of oral dosing vehicles on the developmental toxicity of flubendazole in rats. Reprod Toxicol 17:377-385.
56. Streeter GL. 1930. Focal deficiencies in fetal tissues and their relation to intra-uterine amputation. Contrib Embryol Carnegie Inst 22:1-44.
57. Herva R, Karkinen-Jaaskelainen M. 1984. Amniotic adhesion malformation syndrome: fetal and placental pathology. Teratology 29:11-19.
58. Torpin R. 1965. Amniochorionic mesoblastic fibrous strings and amniotic bands: Associated constricting fetal malformations of fetal death. Am J Obstet Gynecol 91:65-75.
59. Bamforth JS. 1992. Amniotic band sequence: Streeter's hypothesis reexamined. Am J Med Genet 44:280-287.
60. Van Allen MI. 1981. Fetal vascular disruptions: mechanisms and some resulting birth defects. Pediatr Ann 10:219-233.
61. Hoyme HE, Jones MC, Jones KL. 1983. Gastroschisis: abdominal wall disruption secondary to early gestational interruption of the omphalomesenteric artery. Semin Perinatol 7:294-298.
62. Miller ME. 1983. Structural defects as a consequence of early intra-uterine constraint: limb deficiency, polydactyly, and body wall defects. Semin Perinatol 7:274-277.
63. Seeds JW, Cefalo RC, Herbert WN. 1982. Amniotic band syndrome. Am J Obstet Gynecol 144:243-248.
64. Higginbottom MC, Jones KL, Hall BD, Smith DW. 1979. The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 95:544-549.
65. Hirata M, Hall BK. 2000. Temporospatial patterns of apoptosis in chick embryos during the morphogenetic period of development. Int J Dev Biol 44:757-768.
66. Lin CR, Kioussi C, O'Connell S, Briata P, Szeto D, et al. 1999. Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature 401:279-282.
67. Hilger-Eversheim K, Moser M, Schorle H. Buettner R. 2000. Regulatory roles of AP-2 transcription factors in vertebrate development, apoptosis and cell-cycle control. Gene 260:1-12.
68. Schorle H, Meier P, Buchen M, Jaenisch R, Mitchell PJ. 1996. Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature 381:235-238.
69. Zhang J, Hagopian-Donaldson S, Serbedzija G, Elsemore J, Plehn-Dujowich D, et al. 1996. Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature 381:238-241.
70. Dunker N, Krieglstein K. 2002. TgfbetaZ (-/-) Tgfbeta3 (-/-) double knockout mice display severe midline fusion defects and early embryonic lethality. Anat Embryol (Berl) 206:73-83.
71. Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, et al. 1997. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes Dev 11:3128-3142.
72. Manley NR, Barrow JR, Zhang T, Capecchi MR. 2001. Hoxb2 and Hoxb4 act together to specify ventral body wall formation. Dev Biol 237:130-144.
73. Zhang P, Liegeois NJ, Wong C, Finegold M, Hou H, et al. 1997. Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature 387:151-158.
74. Barrow JR, Capecchi MR. 1996. Targeted disruption of the Hoxb-2 locus in mice interferes with expression of Hoxb-1 and Hoxb-4. Development 122:3817-3828.
75. Roebroek AJ, Umans L, Pauli IG, Robertson EJ, van Leuven F, et al. 1998. Failure of ventral closure and axial rotation in embryos lacking the proprotein convertase Furin. Development 125:4863-4876.
76. Gage PJ, Suh H, Camper SA. 1999. Dosage requirement of Pitx2 for development of multiple organs. Development 126:4643-4651.
77. Kitamura K, Miura H, Miyagawa-Tomita S, Yanazawa M, Katoh-Fukui Y, et al. 1999. Mouse Pitx2 deficiency leads to anomalies of the ventral body wall, heart, extra- and periocular mesoderm and right pulmonary isomerism. Development 126:5749-5758.
78. Lu MF, Pressman C, Dyer R, Johnson RL, Martin JF. 1999. Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature 401:276-278.
79. Hamada H, Meno C, Watanabe D, Saijoh Y. 2002. Establishment of vertebrate left-right asymmetry. Nat Rev Genet 3:103-113.
80. Hasty P, Bradley A, Morris JH, Edmondson DG, Venuti JM, et al. 1993. Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene. Nature 364:501-506.
81. Nabeshima Y, Hanaoka K, Hayasaka M, Esumi E, Li S, et al. 1993. Myogenin gene disruption results in perinatal lethality because of severe muscle defect. Nature 364:532-535.
82. Suzuki N, Labosky PA, Furuta Y, Hargett L, Dunn R, et al. 1996. Failure of ventral body wall closure in mouse embryos lacking a procollagen C-proteinase encoded by Bmp1, a mammalian gene related to Drosophila tolloid, Development 122:3587-3595.
83. Carter MG, Johns MA, Zeng X, Zhou L, Zink MC, et al. 2000. Mice deficient in the candidate tumor suppressor gene Hic1 exhibit developmental defects of structures affected in the Miller-Dieker syndrome. Hum Mol Genet 9:413-419.
84. Hartmann D, De Strooper B, Saftig P. 1999. Presenilin-1 deficiency leads to loss of Cajal-Retzius neurons and cortical dysplasia similar to human type 2 lissencephaly. Curr Biol 9:719-727.
85. Hildebrand JD, Soriano P. 1999. Shroom, a PDZ domain-containing actin-binding protein, is required for neural tube morphogenesis in mice. Cell 99:485-497.
86. Klootwijk R, Franke B, van der Zee CE, de Boer RT, Wilms W, et al. 2000. A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects. Hum Mol Genet 9:1615-1622.
87. Qu S, Niswender KD, Ji Q, van der Meer R, Keeney D, et al. 1997. Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development 124:3999-4008.
88. Robin NH, Nadeau JH. 2001. Disorganization in mice and humans. Am J Med Genet 101:334-338.
89. Payne J, Shibasaki F, Mercola M. 1997. Spina bifida occulta in homozygous Patch mouse embryos. Dev Dyn 209:105-116.
90. Soriano P. 1997. The PDGF? receptor is required for neural crest cell development and for normal patterning of the somites. Development 124:2691-2700.
91. Elinson RP, Fang H. 1998. Secondary coverage of the yolk by the body wall in the direct developing frog. Eleutherodactylus coqui: an unusual process for amphibian embryos. Dev Genes Evol 208:457-466.
92. Holley SA, Ferguson EL 1997. Fish are like flies are like frogs: conservation of dorsal-ventral patterning mechanisms. Bioessays 19:281-284.
93. Martin P, Parkhurst SM. 2004. Parallels between tissue repair and embryo morphogenesis. Development 131:3021-3034.
94. Shimmi O, O'Connor MB. 2003. Physical properties of TId, Sog, Tsg and Dpp protein interactions are predicted to help create a sharp boundary in Bmp signals during dorsoventral patterning of the Drosophila embryo. Development 130:4673-4682.
95. Frasch M. 1995. Induction of visceral and cardiac mesoderm by ectodermal Dpp in the early Drosophila embryo. Nature 374:464-467.
96. Staehling-Hampton K, Hoffmann FM, Baylies MK, Rushton E, Bate M. 1994. dpp induces mesodermal gene expression in Drosophila. Nature 372:753-786.
97. Kerber B, Monge I, Mueller M, Mitchell PJ, Cohen SM. 2001. The AP-2 transcription factor is required for joint formation and cell survival in Drosophila leg development. Development 128:1231-1238.
98. Monge I, Krishnamurthy R, Sims D, Hirth F, Spengler M, et al. 2001. Drosophila transcription factor AP-2 in proboscis, leg and brain central complex development. Development 128:1239-1252.
99. Holzschuh J, Barrallo-Gimeno A, Ettl AK, Durr K, Knapik EW, et al. 2003. Noradrenergic neurons in the zebrafish hindbrain are induced by retinoic acid and require tfap2a for expression of the neurotransmitter phenotype. Development 130:5741-5754.
100. Knight RD, Nair S, Nelson SS, Afshar A, Javidan Y, et al. 2003. Iockjaw encodes a zebrafish tfap2a required for early neural crest development. Development 130:5755-5768.
101. O'Brien EK, d'Alencon C, Bonde G, Li W, Schoenebeck J, et al. 2004. Transcription factor Ap-2α is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebra-fish. Dev Biol 265:246-261.
102. Weston CR, Davis RJ. 2002. The JNK signal transduction pathway. Curr Opin Genet Dev 12:14-21.
103. Stumpo DJ, Bock CB, Tuttle JS, Blackshear PJ. 1995. MARCKS deficiency in mice leads to abnormal brain development and perinatal death. Proc Natl Acad Sci USA 92:944-948.
104. Ramirez-Solis R, Zheng H, Whiting J, Krumlauf R, Bradley A. 1993. Hoxb-4 (Hox-2.6) mutant mice show homeotic transformation of a cervical vertebra and defects in the closure of the sternal rudiments. Cell 73:279-294.
105. Mesaeli N, Nakamura K, Zvaritch E, Dickie P, Dziak E, et al. 1999. Calreticulin is essential for cardiac development. J Cell Biol 144:857-868.
106. Rauch F, Prud'homme J, Arabian A, Dedhar S, St-Arnaud R. 2000. Heart, brain, and body wall defects in mice lacking calreticulin. Exp Cell Res 256:105-111.
107. Caspary T, Cleary MA, Perlman EJ, Zhang P, Elledge SJ, et al. 1999. Oppositely imprinted genes p57Kip2 and Igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Genes Dev 13:3115-3124.
108. Chiao E, Fisher P, Crisponi L, Deiana M, Dragatsis I, et al. 2002. Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. Dev Biol 243:185-206.
109. Qu S, Tucker SC, Zhao Q, deCrombrugghe B, Wisdom R. 1999. Physical and genetic interactions between Alx4 and Cart1. Development 126:359-369.
110. Henderson DJ, Conway SJ, Copp AJ. 1999. Rib truncations and fusions in the Sp2H mouse reveal a role for Pax3 in specification of the ventrolateral and posterior parts of the somite. Dev Biol 209:143-158.
111. Tremblay P, Dietrich S, Mericskay M, Schubert FR, Li Z, et al. 1998. A crucial role for Pax3 in the development of the hypaxial musculature and the long-range migration of muscle precursors. Dev Biol 203:49-61.
112. Compagni A, Logan M, Klein R, Adams RH. 2003. Control of skeletal patterning by EphrinB1-EphB interactions. Dev Cell 5:217-230.
113. Davy A, Aubin J, Soriano P. 2004. Ephrin-B1 forward and reverse signaling are required during mouse development. Genes Dev 18:572-583.
114. Orioli D, Henkemeyer M, Lemke G, Klein R, Pawson T. 1996. Sek4 and Nuk receptors cooperate in guidance of commissural axons and in palate formation. Embo J 15:6035-6049.
115. Doyonnas R, Kershaw DB, Duhme C, Merkens H, Chelliah S, et al. 2001. Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin. J Exp Med 194:13-27.
116. Layne MD, Yet SF, Maemura K, Hsieh CM, Bernfield M, et al. 2001. Impaired abdominal wall development and deficient wound healing in mice lacking aortic carboxypeptidase-like protein. Mol Cell Biol 21:5256-5261.
117. Kim PC, Mo R, Hui Cc C. 2001. Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. J Pediatr Surg 36:381-384.