International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Ms Yukari Yada
Mammal. Genet., Natl. Inst. Genet.
1111 Yata
Mishima 411-8540

Co-Authors: 1) Makino S, 2) Ishiwa S. 1) Shiroishi T
Institutions: 1)Mammal. Genet., Natl. Inst. Genet.  2)Ochanomizu Univ. 

X-linked polydactyly (Xpl) is a spontaneous mouse mutation that exhibits preaxial polydactyly only on the hindfeet. To study the molecular basis underlying Xpl phenotype, we analyzed the expression patterns of several marker genes in the limb buds of Xpl embryos by in situ hybridization. At E11.5, ectopic expression of Shh, Fgf4, ptc, Gre and Hoxd11 were observed at the anterior margin of the hindlimb buds. These markers were not detected before the expression of Shh gene at the posterior margin of the limb buds. However, at E10.5, Gli, which is a downstream gene of Shh, was expressed at the anterior side of the Xpl hindlimb prior to the ectopic Shh expression. All results suggested that, in the normal limb development, Xpl gene likely acts in the downstream pathway of Shh signaling cascade.

To isolate the Xpl gene, we carried out linkage analysis of Xpl in crosses with wild mice-derived strains. As a result, Xpl was mapped to a 0.83cM interval between the microsatellite markers, DXMgc39 and DXMit32. Since in the human syntenic region, Xp22, a congenital face and limb deformity, Oral-facial-digital syndrome type 1 (OFD1: OMIM311200), has been mapped, Xpl has been thought to be a mouse model for OFD1. We mapped a murine homologue for OFD1, cXorf5, onto our map, and we excluded it from the critical region of Xpl.

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