SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model (original) (raw)
Lane, P.W. Association of megacolon with two recessive spotting genes in the mouse. J. Hered.57, 29–31 (1966). ArticleCAS Google Scholar
Hosoda, K. et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell79, 1267–1276 (1994) ArticleCAS Google Scholar
Baynash, A.G. et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell79, 1277–1285 (1994). ArticleCAS Google Scholar
Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F. & Pachnis, V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature367, 380–383 (1994). ArticleCAS Google Scholar
Sanchez, M.P. et al. Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature382, 70–73 (1996). ArticleCAS Google Scholar
Pichel, J.G. et al. Defects in enteric innervation and kidney development in mice lacking GDNF. Nature382, 73–76 (1996). ArticleCAS Google Scholar
Moore, M.W. et al. Renal and neuronal abnormalities in mice lacking GDNF. Nature382, 76–79 (1996). ArticleCAS Google Scholar
Lane, P.W. & Liu, H.M. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J. Hered.75, 435–439 (1984). ArticleCAS Google Scholar
Pingault, V. et al. Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease. Genomics39, 86–89 (1997). ArticleCAS Google Scholar
Puliti, A. et al. A high-resolution genetic map of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus. Mamm. Genome6, 763–768 (1995). ArticleCAS Google Scholar
Stock, D.W., Buchanan, A.V., Zhao, Z. & Weiss, K.M. Numerous members of the Sox family of HMG box-containing genes are expressed in developing mouse teeth. Genomics37, 234–237 (1996). ArticleCAS Google Scholar
Wright, E.M., Snopek, B. & Koopman, P. Seven new memebers of the Sox gene family of HMG box-containing genes are expressed during mouse development Nucleic Acids Res.21, 744 (1993). ArticleCAS Google Scholar
Tani, M. et al. Isolation of a novel Sry-related gene that is expressed in high-metastatic K-1735 murine melanoma cells. Genomics39, 30–37 (1997). ArticleCAS Google Scholar
Hashimoto, Y. et al. Identification of genes differentially expressed in association with metastatic potential of K-1735 murine melanoma by messenger RNA differential display. Cancer Res.56, 5266–5271 (1996). CASPubMed Google Scholar
Bennett, D.C., Cooper, P.J. & Hart, I.R. A line of non-tumorigenic mouse melanocytes, syngeneic with the B16 melanoma and requiring a tumour promoter for growth. Int. J. Cancer39, 414–418 (1987). ArticleCAS Google Scholar
Gershon, M.D. Neural crest development: do developing enteric neurons need endothelins? Curr. Biol.5, 601–604 (1995). ArticleCAS Google Scholar
Kapur, R.P., Sweetser, D.A., Doggett, B., Siebert, J.R. & Palmiter, R.D. Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts. Development121, 3787–3795 (1995). CASPubMed Google Scholar
Lahav, R., Ziller, C, Dupin, E. & Le Douarin, N.M. Endothelin 3 promotes neural crest cell proliferation and mediates a vast increase in melanocyte number in culture. Proc. atal. Acad. Sci. USA93, 3892–3897 (1996). ArticleCAS Google Scholar
Opdecamp, K. et al. Melanocyte development in vivo and in neural crest cel cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor. Development124, 2377–2386 (1997). CASPubMed Google Scholar
Reid, K. et al. Multiple roles for endothelin in melanocyte development: regulation of progenitor number and stimulation of differentiation. Development122, 3911–3919 (1996). CASPubMed Google Scholar
Steel, K.P., Davidson, D.R. & Jackson, I.J. TRP-2/DT, a new early melanoblast marker, shows that steel growth factor (c-kit ligand) is a survival factor. Development115, 1111–1119 (1992). CASPubMed Google Scholar
Pavan, W.J. & Tilghman, S.M. Piebald lethal (s1) acts early to disrupt the development of neural crest-derived melanocytes. Proc. Natl. Acad. Sci. USA91, 7159–7163 (1994). ArticleCAS Google Scholar
Pevny, L.H. & Lovell-Badge, R. Sox genes find their feet. Curr. Opin. Genet. Dev.7, 338–344 (1997). ArticleCAS Google Scholar
Prior, H.M. & Walter, M.A. SOX genes: architects of development. Mol. Med.2, 405–412 (1996). ArticleCAS Google Scholar
Foster, J.W. et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SKV-related gene. Nature372, 525–530 (1994). ArticleCAS Google Scholar
Schilham, M.W., Moerer, P., Cumano, A. & Clevers, H.C. Sox-4 facilitates thymocyte differentiation. Eur. J. Immunol.27, 1292–1295 (1997). ArticleCAS Google Scholar
Wagner, T. et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell79, 1111–1120 (1994). ArticleCAS Google Scholar
Bell, D.M. et al. SOX9 directly regulates the type-ll collagen gene. Nature Genet.16, 174–178 (1997). ArticleCAS Google Scholar
Sudbeck, P., Schmitz, M.L., Baeuerle, P.A. & Scherer, G. Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nature Genet.13, 230–232 (1996). ArticleCAS Google Scholar
Kapur, R.P. et al. Abnormal microenvironmental signals underlie intestinal aganglionosis in Dominant megacolon mutant mice. Dev. Biol.174, 360–369 (1996). ArticleCAS Google Scholar
Kapur, R.P., Yost, C. & Palmiter, R.D. Aggregation chimeras demonstrate that the primary defect responsible for aganglionic megacolon in lethal spotted mice is not neuroblast autonomous. Development117, 993–999 (1993). CASPubMed Google Scholar
Rothman, T.P., Goldowitz, D. & Gershon, M.D. Inhibition of migration of neural crest-derived cells by the abnormal mesenchyme of the presumptive aganglionic bowel of Is/Is mice: analysis with aggregation and interspecies chimeras. Dev. Biol.159, 559–573 (1993). ArticleCAS Google Scholar
Dudov, K.P. & Perry, R.P. The gene family encoding the mouse ribosomal protein L32 contains a uniquely expressed intron-containing gene and an unmutated processed gene. Cell37, 457–468 (1984). ArticleCAS Google Scholar
Pavan, W.J., Mac, S., Cheng, M. & Tilghman, S.M. Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res.5, 29–41 (1995). ArticleCAS Google Scholar
Swift, G.H., Dagorn, J.C., Ashley, P.L, Cummings, S.W. & MacDonald, R.J. Rat pancreatic kallikrein mRNA: nucleotide sequence and amino acid sequence of the encoded preproenzyme. Proc. Natl. Acad. Sci. USA79, 7263–7267 (1982). ArticleCAS Google Scholar
Wilkinson, D.G. & Nieto, M.A. Detection of messenger RNA by in situ hybridization to tissue sections and whole mounts. Methods Enzymol.225, 361–373 (1993). ArticleCAS Google Scholar