Further Development 15.11: Mice, Humans, and How CNCC May Connect Disparate Diseases

Neural Crest Cells and Axonal Specificity

In mice, cardiac neural crest cells are peculiar in that they express the transcription factor Pax3. Mutations of the Pax3 gene result in fewer cardiac neural crest cells, which in turn leads to persistent truncus arteriosus (failure of the aorta and pulmonary artery to separate) as well as to defects in the thymus, thyroid, and parathyroid glands (Conway et al. 1997, 2000). The path from the dorsal neural tube to the heart appears to involve the coordination between the attractive cues provided by semaphorin-3C and the repulsive signals provided by semaphorin-6 (Toyofuku et al. 2008). Congenital heart defects in humans and mice often occur along with defects in the parathyroid, thyroid, or thymus glands. It would not be surprising to find that all these problems are linked to defects in the migration of cells from the neural crest (Hutson and Kirby 2007).

Literature Cited

Conway, S. J., D. J. Henderson and A. J. Copp. 1997. Pax3 is required for cardiac neural crest migration in the mouse: Evidence from the Splotch (Sp2H) mutant. Development 124: 505–514.
PubMed Link

Conway, S. J., J. Bundy, J. Chen, E. Dickman, R. Rogers and B. M. Will. 2000. Decreased neural crest stem cell expansion is responsible for the conotruncal heart defects within the Splotch (Sp2H)/Pax3 mouse mutant. Cardiovasc. Res.47: 314–328.
PubMed Link

Hutson, M. R. and M. L. Kirby. 2007. Model systems for the study of heart development and disease: Cardiac neural crest and conotruncal malformations.Semin. Cell Dev. Biol. 18: 101–110.
PubMed Link

Toyofuku, T. and 11 others. 2008. Repulsive and attractive semaphorins cooperate to direct the navigation of cardiac neural crest cells. Dev. Biol. 321: 251–262.
PubMed Link

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