Home >> Current Drug Metabolism, Volume 7, Number 9

Pax3 and the Splotch Mutations: Structure, Function, and Relationship to Teratogenesis, Including Gene-Chemical Interactions

Authors: Machado, A.F.; Martin, L.J.; Collins, M.D.

Source: Current Drug Metabolism, Volume 7, Number 9, 1 June 2001 , pp. 751-785(35)

Publisher: Bentham Science Publishers

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Abstract:

The current review focuses on the malformations resulting from mutations in Pax3 and the interactions of Pax3 mutations with chemically induced teratogenesis, as well as other mutant genes or genetic strains, as a paradigm to illustrate the connections among genetics, protein function, and teratology. Splotch mice result from various mutations involving Pax3, and Waardenburg syndromes I and III in the human are due to mutations in PAX3. The human and murine phenotype/genotype correlations are thus compared and contrasted. The role of Pax3 in normal development, as well as the regulation of Pax3 expression and DNA binding, are also addressed on the premise that a mechanistic understanding of normal developmental processes is prerequisite to full comprehension of the mechanisms by which abnormal development is induced. Pax3 encodes a transcription factor involved in myogenesis, melanogenesis and neurogenesis, as well as regulating genes that may be involved in other cellular processes. The primary goal of this review is to examine the role of a single important developmental gene in the interaction of genetics and abnormal development.
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  • Current Pharmaceutical Design publishes timely in-depth reviews covering all aspects of current research in rational drug design. Each issue is devoted to a single major therapeutic area. A Guest Editor who is an acknowledged authority in a therapeutic field has solicits for each issue comprehensive and timely reviews from leading researchers in the pharmaceutical industry and academia.

    Each thematic issue of Current Pharmaceutical Design covers all subject areas of major importance to modern drug design, including: medicinal chemistry, pharmacology, drug targets and disease mechanism.
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