Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos

Pediatric and Developmental Pathology

Volumn 2, Issue 6, 1999, Pages 559-569

  Kapur, Raj P ^a  

^a UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

Author keywords

Enteric nervous system; Hirschsprung disease; Intestinal aganglionosis; Neural crest; Neurocristopathy

Indexed keywords

AGANGLIONOSIS; ANIMAL EXPERIMENT; ARTICLE; CELL DEATH; EMBRYO; EMBRYO DEVELOPMENT; FEMALE; GENOTYPE; IMMUNOHISTOCHEMISTRY; MARKER GENE; MOUSE; NEURAL CREST CELL; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; STEM CELL; TRANSGENE;

ANIMALS; APOPTOSIS; DISEASE MODELS, ANIMAL; FEMALE; HIRSCHSPRUNG DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU NICK-END LABELING; INTERMEDIATE FILAMENT PROTEINS; INTESTINES; MEMBRANE GLYCOPROTEINS; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, MUTANT STRAINS; MICE, TRANSGENIC; NERVE TISSUE PROTEINS; NEURAL CREST; NEUROFILAMENT PROTEINS; POLYMERASE CHAIN REACTION; RNA, MESSENGER; TYROSINE 3-MONOOXYGENASE;

EID: 0032727413     PISSN: 10935266     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100249900162     Document Type: Article

References (32)

1. Webster W. Embryogenesis of the enteric ganglia in normal mice and mice that develop congenital aganglionic megacolon. J Embryol Exp Morphol 1973;30:573-585.
2. Durbec PL, Larsson-Blomberg LB, Schuchardt A, Costantini F, Pachnis V. Common origin and developmental dependence on c-ret subsets of enteric and sympathetic neuroblasts. Development 1996;122:349-358.
3. Serbedzija GN, Burgan S, Fraser SE, Bronner-Fraser M. Vital dye labelling demonstrates a sacral neural crest contribution to the enteric nervous system of chick and mouse embryos. Development 1991;111:857-866.
4. Pomeranz HD, Gershon MD. Colonization of the post-umbilical bowel by cells derived from the sacral neural crest: direct tracing of cell migration using and intercalating probe and replication-deficient retrovirus. Development 1991;111:647-655.
5. Pham TD, Gershon MD, Rothman TP. Time of origin of neurons in the murine enteric nervous system: sequence in relation to phenotype. J Comp Med 1991;314:789-798.
6. Yntema CL, Hammond WS. The origin of intrinsic ganglia of trunk viscera from vagal neural crest in the chick embryo. J Comp Neurol 1954;101:515-542.
7. Peters-van der Sanden MJH, Kirby ML, Gittenberger-de Groot A, Tibboel D, Mulder MP, Meijers C. Ablation of various regions within the avian vagal neural crest has differential effects on ganglion formation in the fore-, mid-and hindgut. Dev Dyn 1993;196:183-194.
8. Chakravarti A. Endothelin receptor-mediated signaling in Hirschsprung disease. Hum Mol Genet 1996;5:303-307.
9. Schuchardt A, D'Agati V, Larsson BL, Costantini F, Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 1994;367: 380-383.
10. Greenstein-Baynash A, Hosoda K, Giaid A, et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of neural crest-derived melanocytes and enteric neurons: missense mutation of endothelin-3 gene in lethal spotting mice. Cell 1994;79:1277-1285.
11. Hosoda K, Hammer RE, Richardson JA, et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce aganglionic megacolon associated with white-spotted coat color in mice. Cell 1994;79:1267-1276.
12. Pichel JG, Shen L, Sheng HZ, et al. Defects in enteric innervation and kidney development in mice lacking GDNF. Nature 1996;382:73-76.
13. Moore MW, Klein RD, Farinas I, et al. Renal and neuronal abnormalities in mice lacking GDNF. Nature 1996;382:76-79.
14. Kapur RP, Yost C, Palmiter RD. A transgenic model for studying development of the enteric nervous system in normal and aganglionic mice. Development 1992;116:167-175.
15. Kapur RP, Sweetser DA, Doggett B, Siebert JR, Palmiter RD. Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts. Development 1995;121:3787-3795.
16. Lane PW, Liu HM. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered 1984;75:435-439.
17. Kapur RP, Livingston R, Doggett B, Sweetser DA, Siebert JR, Palmiter RD. Abnormal microenvironmental signals underlie intestinal aganglionosis in Dominant megacolon mutant mice. DevBiol 1996;174:360-369.
18. Southard-Smith EM, Kos L, Pavan WJ. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 1998;18:60-64.
19. Herbarth B, Pingault V, Bondurand N, et al. Mutation of the Sty-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 1998;95:5161-5165.
20. Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998;18:171-173.
21. Mercer EH, Hoyle GW, Kapur RP, Brinster RL, Palmiter RD. The dopamine beta-hydroxylase gene promoter directs expression of E. coli lacZ to sympathetic and other neurons in adult transgenic mice. Neuron 1991;7:703-716.
22. Kapur RP, Hoyle GW, Mercer EH, Brinster RL, Palmiter RD. Some neuronal cell populations express human dopamine beta-hydroxylase-lacZ transgenes transiently during embryonic development. Neuron 1991;7:717-727.
23. Lo L, Anderson DJ. Postmigratory neural crest cells expressing c-RET display restricted developmental and proliferative capacities. Neuron 1995;15:527-539.
24. Blaugrund E, Pham TD, Tennyson VM, et al. Distinct subpopulations of enteric neuronal progenitors defined by time and place of development, sympathoadrenal lineage markers and Mash-1-dependence. Development 1996;122: 309-320.
25. Sommer L, Shah N, Rao M, Anderson DJ. The cellular function of MASH1 in autonomie neurogenesis. Neuron 1995;15:1245-1258.
26. Soriano P. The PDGFα receptor is required for neural crest cell development and for normal patterning of the somites. Development 1997;124:2691-2700.
27. Wehrle-Haller B, Weston JA. Soluble and cell-bound forms of steel factor activity play distinct roles in melanocyte precursor dispersal and survival on the lateral neural crest migration pathway. Envelopment 1995;121:731-742.
28. Nishijima E, Meijers JH, Tibboel D, et al. Formation and malformation of the enteric nervous system in mice: an organ culture study. J Pediatr Surg 1990;25:627-631.
29. Hearn CJ, Murphy M, Newgreen D. GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro. Dev Biol 1998;197:93-105.
30. Guillemot F, Lo L-C, Johnson JE, Auerbach A, Anderson DJ, Joyner AL. Mammalian achaete-scute homolog-1 is required for the early development of olfactory and autonomic neurons. Cell 1993;75:463-476.
31. Deol MS. The neural crest and the acoustic ganglion. J Embryol Exp Morphol 1967;17:533-541.
32. Yanagisawa H, Yanagisawa M, Kapur RP, et al. Dual genetic pathways of endothelin-mediated intercellular signalling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 1998;125:825-836.