Transgenic rescue of congenital heart disease and spina bifida in Splotch mice

QUICK SEARCH:

[advanced]

	Author:		Keyword(s):

Home Help Feedback Subscriptions Archive Search Table of Contents

This Article

	Summary
	Full Text (PDF)
	Alert me when this article is cited
	Alert me if a correction is posted

Services

	Email this article to a friend
	Similar articles in this journal
	Similar articles in PubMed
	Alert me to new issues of the journal
	Download to citation manager


Citing Articles

	Citing Articles via HighWire
	Citing Articles via Google Scholar

Google Scholar

	Articles by Li, J.
	Articles by Epstein, J. A.
	Search for Related Content

PubMed

	PubMed Citation
	Articles by Li, J.
	Articles by Epstein, J. A.

Auerbach, R (1954). Analysis of the developmental effects of a lethal mutation in the house mouse. J. Exper. Zool 127, 305-329.

Barr, F. G., Galili, N., Holick, J., Biegel, J. A., Rovera, G. and Emanuel, B. S (1993). Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Nature Genet 3, 113-117.[Medline]

Bober, E., Franz, T., Arnold, H., Gruss, P. and Tremblay, P (1994). Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells. Development 120, 603-612.[Abstract]

Borycki, A.-G., Li, J., Jin, F., Emerson, C. P. J. and Epstein, J. A (1999). Pax3 functions in cell survival and in Pax7 regulation. Development 126, 1665-1674.[Abstract]

Conway, S., Henderson, D. and Copp, A (1997). Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) mutant. Development 124, 505-514.[Abstract]

Conway, S. J., Godt, R. E., Hatcher, C. J., Leatherbury, L., Zolotouchnikov, V. V., Brotto, M. A. P., Copp, A. J., Kirby, M. L. and Creazzo, T. L (1997). Neural crest is involved in development of abnormal myocardial function. J. Mol. Cell. Cardiol 29, 2675-2685.[Medline]

Corcoran, J (1998). What are the molecular mechanisms of neural tube defects?. BioEssays 20, 6-8.[Medline]

Creazzo, T. L., Brotto, M. A. and Burch, J (1997). Excitation-contraction coupling in the day 15 embryonic chick heart with persistent truncus arteriosus. Pediatr. Res 42, 731-737.[Medline]

Creazzo, T. L., Godt, R. E., Leatherbury, L., Conway, S. J. and Kirby, M. L (1998). Role of cardiac neural crest cells in cardiovascular development. Annu. Rev. Physiol 60, 267-286.[Medline]

Daston, G., Lamar, E., Olivier, M. and Goulding, M (1996). Pax-3 isnecessary for migration but not differentiation of limb muscle precursors in the mouse. Development 122, 1017-1027.[Abstract]

Driscoll, D. A (1994). Genetic basis of DiGeorge and velocardio-facial syndromes. Curr. Opin. Pediatr 6, 702-706.[Medline]

Epstein, D. J., Vekemans, M. and Gros, P (1991). Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 67, 767-774.[Medline]

Epstein, D. J., Vogan, K. J., Trasler, D. G. and Gros, P (1993). A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proc. Natl. Acad. Sci. USA 90, 532-536.[Abstract/Free Full Text]

Epstein, J. A., Lam, P., Jepeal, L., Maas, R. L. and Shapiro, D. N (1995). Pax3 inhibits myogenic differentiation of cultured myoblast cells. J. Biol. Chem 270, 11719-11722.[Abstract/Free Full Text]

Epstein, J. A., Shapiro, D. N., Cheng, J., Lam, P. Y. and Maas, R. L (1996). Pax3 modulates expression of the c-Met receptor during limb muscle development. Proc. Natl. Acad. Sci. USA 93, 4213-4218.[Abstract/Free Full Text]

Epstein, J. A., Song, B., Lakkis, M. and Wang, C (1998). Tumor-specific PAX3-FKHR transcription factor, but not PAX3, activates the platelet-derived growth factor alpha receptor. Mol. Cell Biol 18, 4118-4130.[Abstract/Free Full Text]

Fleming, A. and Copp, A. J (1998). Embryonic folate metabolism and mouse neural tube defects. Science 280, 2107-2109.[Abstract/Free Full Text]

Franz, T (1989). Persistent truncus arteriosus in the Splotch mutant mouse. Anat. Embryol 180, 457-464.[Medline]

Franz, T. and Kothary, R (1993). Characterization of the neural crest defect in Splotch (Sp1H) mutant mice using a lacZ transgene. Dev. Brain. Res 72, 99-105.[Medline]

Franz, T., Kothary, R., Surani, M. A., Halata, Z. and Grim, M (1993). The Splotch mutation interferes with muscle development in the limbs. Anat. Embryol 187, 153-160.[Medline]

Fredericks, W. J., Galili, N., Mukhopadhyay, S., Rovera, G., Bennicelli, J., Barr, F. G. and Rauscher, F. J (1995). The PAX3-FKHR fusion protein created by the t(2;13) translocation in alveolar rhabdomyosarcomas is a more potent transcriptional activator than PAX3. Mol. Cell. Biol 15, 1522-1535.[Abstract]

Galili, N., Davis, R. J., Fredericks, W. J., Mukhopadhyay, S., Rauscher, F. J., III, Emanuel, B. S., Rovera, G. and Barr, F. G (1993). Fusion of a fork head domain gene to PAX3 in the solid tumor alveolar rhabdomyosarcoma. Nat. Genet 5, 230-235.[Medline]

Glaser, T., Jepeal, L., Edwards, J. G., Young, S. R., Favor, J. and Maas, R. L (1994). PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat. Genet 7, 463-471.[Medline]

Goulding, M., Lumsden, A. and Paquette, A. J (1994). Regulation of Pax-3 expression in the dermomyotome and its role in muscle development. Development 120, 957-971.[Abstract]

Goulding, M. D., Chalepakis, G., Deutsch, U., Erselius, J. R. and Gruss, P (1991). Pax-3, a novel murine DNA binding protein expressed during early neurogenesis. EMBO J 10, 1135-1147.[Medline]

Hazelton, R. D (1970). A radioautographic analysis of the migration and fate of cells derived from the occipital somites in the chick embryo with specific reference to the development of the hypoglossal musculature. J. Embryol. Exp. Morphol 24, 455-466.[Medline]

Hoth, C. F., Milunsky, A., Lipsky, N., Sheffer, R., Clarren, S. K. and Baldwin, C. T (1993). Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am. J. Hum. Genet 52, 455-462.[Medline]

Jacks, T., Shih, T. S., Schmitt, E. M., Bronson, R. T., Bernards, A. and Weinberg, R. A (1994). Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nat. Genet 7, 353-361.[Medline]

Kirby, M. L., Gale, T. F. and Stewart, D. E (1983). Neural crest cells contribute to aorticopulmonary septation. Science 220, 1059-1061.[Abstract/Free Full Text]

Lutz, B., Kuratani, S., Cooney, A., Wawersik, S., Tsai, S. Y., Eichele, G. and Tsai, M (1994). Developmental regulation of the orphan receptor COUP-TFII gene in spinal motor neurons. Development 120, 25-36.[Abstract]

Mackenzie, S., Walsh, F. S. and Graham, A (1998). Migration of hypoglossal myoblast precursors. Dev. Dyn 213, 349-358.[Medline]

Maroto, M., Reshef, R., Munsterberg, A. E., Koester, S., Goulding, M. and Lassar, A (1997). Ectopic Pax-3 activates myoD and myf-5 expression in embryonic mesoderm and neural tissue. Cell 89, 139-148.[Medline]

Maulbecker, C. C. and Gruss, P (1993). The oncogenic potential of Pax genes. EMBO J 12, 2361-2367.[Medline]

Moase, C. E. and Trasler, D. G (1992). Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans. J. Med. Genet 29, 145-151.[Free Full Text]

Natoli, T. A., Ellsworth, M. K., Wu, C., Gross, K. W. and Pruitt, S. C (1997). Positive and negative DNA sequence elements are required to establish the pattern of Pax3 expression. Development 124, 617-626.[Abstract]

Nosek, T. M., Fogaca, R. T., Hatcher, C. J., Brotto, M. A. and Godt, R. E (1997). Effect of cardiac neural crest ablation on contractile force and calcium uptake and release in chick heart. Am. J. Physiol 273, 1464-.

Read, A. P. and Newton, V. E (1997). Waardenburg syndrome. J. Med. Genet 34, 656-665.[Abstract/Free Full Text]

Schatteman, G., Motley, S., Effman, E. and Bowen-Pope, D (1995). Platelet-derived growth factor receptor alpha subunit deleted Patch mouseexhibits severe cardiovascular dysmorphogenesis. Teratology 51, 351-366.[Medline]

Schedl, A., Ross, A., Lee, M., Engelkamp, D., Rashbass, P., van Heyningen, V. and Hastie, N. D (1996). Influence of Pax6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86, 71-82.[Medline]

Serbedzija, G. N. and McMahon, A. P (1997). Analysis of neural crest cell migration in Splotch mice using a neural crest-specific lacZ reporter. Dev. Biol 185, 139-147.[Medline]

Shapiro, D. N., Sublett, J. E., Li, B., Downing, J. R. and Naeve, C. W (1993). Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma. Cancer Res 53, 5108-5112.[Abstract/Free Full Text]

Sucov, H. M., Dyson, E., Gumeringer, C. L., Price, J., Chien, K. R. and Evans, R. M (1994). RXR alpha mutant mice establish a genetic basis for vitamin A signaling in heart morphogenesis. Genes Dev 8, 1007-1018.[Abstract/Free Full Text]

Tajbakhsh, S., Rocancourt, D., Cossu, G. and Buckingham, M (1997). Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and myf-5 act upstream of myoD. Cell 89, 127-138.[Medline]

Tassabehji, M., Read, A. P., Newton, V. E., Patton, M., Gruss, P., Harris, R. and Strachan, T (1993). Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat. Genet 3, 26-30.[Medline]

Teillet, M. A., Kalcheim, C. and Le Douarin, N. M (1987). Formation of the dorsal root ganglia in the avian embryo: segmental origin and migratory behavior of neural crest progenitor cells. Dev. Biol 120, 329-347.[Medline]

Tosney, K. W., Dehnbostel, D. B. and Erickson, C. A (1994). Neural crest cells prefer the myotome's basal lamina over the sclerotome as a substratum. Dev. Biol 163, 389-406.[Medline]

Tremblay, P., Dietrich, S., Mericskay, M., Schubert, F. R., Li, Z. and Paulin, D (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.[Medline]

Tremblay, P., Pituello, F. and Gruss, P (1996). Inhibition of floor plate differentiation by Pax3: evidence from ectopic expression in transgenic mice. Development 122, 2555-2567.[Abstract]

Wang, H. U. and Anderson, D. J (1997). Eph family transmembrane ligands can mediate repulsive guidance of trunk neural crest migration and motor axon outgrowth. Neuron 18, 383-396.[Medline]

Williams, B. A. and Ordahl, C. P (1994). Pax-3 expression in segmental mesoderm marks early stages in myogenic cell specification. Development 120, 785-796.[Abstract]

Yang, X. M., Vogan, K., Gros, P. and Park, M (1996). Expression of the met receptor tyrosine kinase in muscle progenitor cells in somites and limbs is absent in Splotch mice. Development 122, 2163-2171.[Abstract]

This article has been cited by other articles:

C.-P. Chang, K. Stankunas, C. Shang, S.-C. Kao, K. Y. Twu, and M. L. Cleary
Pbx1 functions in distinct regulatory networks to pattern the great arteries and cardiac outflow tract
Development, November 1, 2008; 135(21): 3577 - 3586.
[Abstract] [Full Text] [PDF]

G. N. Corry, M. J. Hendzel, and D. A. Underhill
Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome
Hum. Mol. Genet., June 15, 2008; 17(12): 1825 - 1837.
[Abstract] [Full Text] [PDF]

E. Vasyutina, D. C. Lenhard, H. Wende, B. Erdmann, J. A. Epstein, and C. Birchmeier
RBP-J (Rbpsuh) is essential to maintain muscle progenitor cells and to generate satellite cells
PNAS, March 13, 2007; 104(11): 4443 - 4448.
[Abstract] [Full Text] [PDF]

J. Jung, T.-g. Kim, G. E. Lyons, H.-R. C. Kim, and Y. Lee
Jumonji Regulates Cardiomyocyte Proliferation via Interaction with Retinoblastoma Protein
J. Biol. Chem., September 2, 2005; 280(35): 30916 - 30923.
[Abstract] [Full Text] [PDF]

C. Keller, B. R. Arenkiel, C. M. Coffin, N. El-Bardeesy, R. A. DePinho, and M. R. Capecchi
Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function
Genes & Dev., November 1, 2004; 18(21): 2614 - 2626.
[Abstract] [Full Text] [PDF]

W. Y. Chan, C. S. Cheung, K. M. Yung, and A. J. Copp
Cardiac neural crest of the mouse embryo: axial level of origin, migratory pathway and cell autonomy of the splotch (Sp2H) mutant effect
Development, July 15, 2004; 131(14): 3367 - 3379.
[Abstract] [Full Text] [PDF]

R. W. Stottmann, M. Choi, Y. Mishina, E. N. Meyers, and J. Klingensmith
BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium
Development, May 1, 2004; 131(9): 2205 - 2218.
[Abstract] [Full Text] [PDF]

P. J. Gruber and J. A. Epstein
Development Gone Awry: Congenital Heart Disease
Circ. Res., February 20, 2004; 94(3): 273 - 283.
[Abstract] [Full Text] [PDF]

R. C. Milewski, N. C. Chi, J. Li, C. Brown, M. M. Lu, and J. A. Epstein
Identification of minimal enhancer elements sufficient for Pax3 expression in neural crest and implication of Tead2 as a regulator of Pax3
Development, February 15, 2004; 131(4): 829 - 837.
[Abstract] [Full Text] [PDF]

D. Lang and J. A. Epstein
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
Hum. Mol. Genet., April 15, 2003; 12(8): 937 - 945.
[Abstract] [Full Text] [PDF]

S. J. Kwang, S. M. Brugger, A. Lazik, A. E. Merrill, L.-Y. Wu, Y.-H. Liu, M. Ishii, F. O. Sangiorgi, M. Rauchman, H. M. Sucov, et al.
Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest
Development, March 3, 2003; 129(2): 527 - 538.
[Abstract] [Full Text] [PDF]

I. STUCKMANN and A.B. LASSAR
Erythropoietin and Retinoic Acid Signaling in the Epicardium Is Required for Cardiac Myocyte Proliferation
Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 45 - 48.
[Abstract] [PDF]

A.D. GITLER, C.B. BROWN, L. KOCHILAS, J. LI, and J.A. EPSTEIN
Neural Crest Migration and Mouse Models of Congenital Heart Disease
Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 57 - 62.
[Abstract] [PDF]

C. B. Brown, L. Feiner, M.-M. Lu, J. Li, X. Ma, A. L. Webber, L. Jia, J. A. Raper, and J. A. Epstein
PlexinA2 and semaphorin signaling during cardiac neural crest development
Development, August 15, 2001; 128(16): 3071 - 3080.
[Abstract] [Full Text] [PDF]

D. E. Gutstein, G. E. Morley, H. Tamaddon, D. Vaidya, M. D. Schneider, J. Chen, K. R. Chien, H. Stuhlmann, and G. I. Fishman
Conduction Slowing and Sudden Arrhythmic Death in Mice With Cardiac-Restricted Inactivation of Connexin43
Circ. Res., February 16, 2001; 88(3): 333 - 339.
[Abstract] [Full Text] [PDF]

S. J. Conway, J. Bundy, J. Chen, E. Dickman, R. Rogers, and B. M. Will
Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the Splotch (Sp2H)/Pax3 mouse mutant
Cardiovasc Res, August 1, 2000; 47(2): 314 - 328.
[Abstract] [Full Text] [PDF]

J. Epstein, J Li, D Lang, F Chen, C. Brown, F Jin, M. Lu, M Thomas, E Liu, A Wessels, et al.
Migration of cardiac neural crest cells in Splotch embryos
Development, January 5, 2000; 127(9): 1869 - 1878.
[Abstract] [PDF]

H Brohmann, K Jagla, and C Birchmeier
The role of Lbx1 in migration of muscle precursor cells
Development, January 1, 2000; 127(2): 437 - 445.
[Abstract] [PDF]

L Milenkovic, L. Goodrich, K. Higgins, and M. Scott
Mouse patched1 controls body size determination and limb patterning
Development, January 10, 1999; 126(20): 4431 - 4440.
[Abstract] [PDF]

This Article

Summary

Full Text (PDF)

Alert me when this article is cited

Alert me if a correction is posted

Services

Email this article to a friend

Similar articles in this journal

Similar articles in PubMed

Alert me to new issues of the journal

Download to citation manager

Citing Articles

Citing Articles via HighWire

Citing Articles via Google Scholar

Google Scholar

Articles by Li, J.

Articles by Epstein, J. A.

Search for Related Content

PubMed

PubMed Citation

Articles by Li, J.

Articles by Epstein, J. A.

				G. N. Corry, M. J. Hendzel, and D. A. Underhill Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome Hum. Mol. Genet., June 15, 2008; 17(12): 1825 - 1837. [Abstract] [Full Text] [PDF]

				E. Vasyutina, D. C. Lenhard, H. Wende, B. Erdmann, J. A. Epstein, and C. Birchmeier RBP-J (Rbpsuh) is essential to maintain muscle progenitor cells and to generate satellite cells PNAS, March 13, 2007; 104(11): 4443 - 4448. [Abstract] [Full Text] [PDF]

				J. Jung, T.-g. Kim, G. E. Lyons, H.-R. C. Kim, and Y. Lee Jumonji Regulates Cardiomyocyte Proliferation via Interaction with Retinoblastoma Protein J. Biol. Chem., September 2, 2005; 280(35): 30916 - 30923. [Abstract] [Full Text] [PDF]

				C. Keller, B. R. Arenkiel, C. M. Coffin, N. El-Bardeesy, R. A. DePinho, and M. R. Capecchi Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function Genes & Dev., November 1, 2004; 18(21): 2614 - 2626. [Abstract] [Full Text] [PDF]

				W. Y. Chan, C. S. Cheung, K. M. Yung, and A. J. Copp Cardiac neural crest of the mouse embryo: axial level of origin, migratory pathway and cell autonomy of the splotch (Sp2H) mutant effect Development, July 15, 2004; 131(14): 3367 - 3379. [Abstract] [Full Text] [PDF]

				R. W. Stottmann, M. Choi, Y. Mishina, E. N. Meyers, and J. Klingensmith BMP receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium Development, May 1, 2004; 131(9): 2205 - 2218. [Abstract] [Full Text] [PDF]

				P. J. Gruber and J. A. Epstein Development Gone Awry: Congenital Heart Disease Circ. Res., February 20, 2004; 94(3): 273 - 283. [Abstract] [Full Text] [PDF]

				R. C. Milewski, N. C. Chi, J. Li, C. Brown, M. M. Lu, and J. A. Epstein Identification of minimal enhancer elements sufficient for Pax3 expression in neural crest and implication of Tead2 as a regulator of Pax3 Development, February 15, 2004; 131(4): 829 - 837. [Abstract] [Full Text] [PDF]

				D. Lang and J. A. Epstein Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer Hum. Mol. Genet., April 15, 2003; 12(8): 937 - 945. [Abstract] [Full Text] [PDF]

				S. J. Kwang, S. M. Brugger, A. Lazik, A. E. Merrill, L.-Y. Wu, Y.-H. Liu, M. Ishii, F. O. Sangiorgi, M. Rauchman, H. M. Sucov, et al. Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest Development, March 3, 2003; 129(2): 527 - 538. [Abstract] [Full Text] [PDF]

				I. STUCKMANN and A.B. LASSAR Erythropoietin and Retinoic Acid Signaling in the Epicardium Is Required for Cardiac Myocyte Proliferation Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 45 - 48. [Abstract] [PDF]

				A.D. GITLER, C.B. BROWN, L. KOCHILAS, J. LI, and J.A. EPSTEIN Neural Crest Migration and Mouse Models of Congenital Heart Disease Cold Spring Harb Symp Quant Biol, January 1, 2002; 67(0): 57 - 62. [Abstract] [PDF]

				C. B. Brown, L. Feiner, M.-M. Lu, J. Li, X. Ma, A. L. Webber, L. Jia, J. A. Raper, and J. A. Epstein PlexinA2 and semaphorin signaling during cardiac neural crest development Development, August 15, 2001; 128(16): 3071 - 3080. [Abstract] [Full Text] [PDF]

				D. E. Gutstein, G. E. Morley, H. Tamaddon, D. Vaidya, M. D. Schneider, J. Chen, K. R. Chien, H. Stuhlmann, and G. I. Fishman Conduction Slowing and Sudden Arrhythmic Death in Mice With Cardiac-Restricted Inactivation of Connexin43 Circ. Res., February 16, 2001; 88(3): 333 - 339. [Abstract] [Full Text] [PDF]

				S. J. Conway, J. Bundy, J. Chen, E. Dickman, R. Rogers, and B. M. Will Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the Splotch (Sp2H)/Pax3 mouse mutant Cardiovasc Res, August 1, 2000; 47(2): 314 - 328. [Abstract] [Full Text] [PDF]

				J. Epstein, J Li, D Lang, F Chen, C. Brown, F Jin, M. Lu, M Thomas, E Liu, A Wessels, et al. Migration of cardiac neural crest cells in Splotch embryos Development, January 5, 2000; 127(9): 1869 - 1878. [Abstract] [PDF]

				H Brohmann, K Jagla, and C Birchmeier The role of Lbx1 in migration of muscle precursor cells Development, January 1, 2000; 127(2): 437 - 445. [Abstract] [PDF]

				L Milenkovic, L. Goodrich, K. Higgins, and M. Scott Mouse patched1 controls body size determination and limb patterning Development, January 10, 1999; 126(20): 4431 - 4440. [Abstract] [PDF]