The Splotch-Delayed (Spd) Mouse Mutant Carries a Point Mutation within the Paired Box of the Pax-3 Gene

Transfection of melanoma cells with antisensePAX3oligonucleotides additively complements cisplatin-induced cytotoxicity

“…In mouse, spontaneous heterozygous Splotch (Sp/+) mice have Pax3 mutations and exhibit coat color abnormalities characterized by a white patch on the belly due to defective neural crestderived melanocyte development. Homozygous Sp/Sp embryos display multiple severe defects and die prior to day 14 of gestation (5,6). Although the importance of PAX3 has been identified in many embryologic processes including neural crest cell migration (7), neural tube closure, limb muscle formation (8 -10), and PAX3/FKHR (forkhead domain gene) fusion protein generated by chromosomal translocations t (2;13) has been well characterized in the pediatric malignant tumor alveolar rhabdomyosarcoma (11 -14), the role of PAX3 in melanoma is still not clear, in spite of several reports on deregulation of PAX3 expression in melanomas (15 -18).…”

Molecular basis for skeletal variation: insights from developmental genetic studies in mice

“…In mammals, nine Pax genes have been identified to date, of which four are known to be expressed during somite development. These include Pax1 Wallin et al, 1994), Pax3 (Goulding et al, 1993;Vogan et al, 1993;Williams and Ordahl, 1994), Pax7 (Jostes et al, 1990), and Pax9 (Neubuser et al, 1995;Wallin et al, 1993). Pax3 is expressed throughout the unsegmented presomitic mesoderm.…”

Onset of ETS expression is not accelerated by premature exposure to signals from limb mesenchyme

“…When axons grow into the limb, the limb bud consists of a dorsal and a ventral muscle mass, each composed of myogenic cells derived from the somites, and mesenchymal cells derived from lateral plate mesoderm (discussed in Kardon et al, 2003). To distinguish which population of cells provides the signal for initiation of ETS expression, we examined Er81 and Pea3 in the Pax3 mouse mutant, Splotch-delayed (Sp d ) in which myogenic precursors do not migrate into the limb (Franz, 1993;Vogan et al, 1993;Supplementary Figure S2). Both Er81 and Pea3 were expressed in motor neurons at E13.5 in the absence of myogenic cells (n ϭ 5; Fig.…”

“…Embryos were staged according to Hamburger and Hamilton (1951) at the time of experimental manipulation and at death. Pax3 mutant mice embryos (Splotch-de- Franz, 1993;Vogan et al, 1993) were kindly provided by Dr. Gabrielle Kardon (University of Utah).…”