International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


Dr Oh Bermseok
Korea National Institute of Health
5 Nokbun-dong, Eunpyung-gu
Seoul 122-701 Korea

Co-Authors:  Jin SJ, Koo SK, Lee KS, Park DH, Jung SC
Institution:   Korea NIH, Seoul

Polydactyly is a congenital anomaly of digit duplication caused by the mutation of genes involved in limb development. Preaxial polydactyly, thumb duplication is the most frequent form among the polydactyly. The genetics is not completely clear though many cases of familial inheritance have been reported. To study the mechanism of polydactyly and identify the causative genes, two preaxial polydactyly mice, mes and Dh, have been investigated in the laboratory. mes has an complete penetrance of thumb biphalangeal polydactyly in an autosomal recessive manner. Differently from other polydactyly model mice mes does not show syndactyly or oligodactyly, therefore this mutant is an exellent model to study the mechanism of preaxial polydactyly. Last year the candidate gene for the mes has been reported as patched, receptor of anterior-posterior patterning gene Shh, but no ectopic expression of genes involved in the Shh-Ptc pathways was found. We hypothesize that preaxial polydactyly in mes is caused by the outgrowth of anterior region of limb bud diectely or indirectly by the truncated Ptc. To prove it we study the proliferation and apoptosis of the anterior region in mes and also examine any change in genes involved in the Shh-Ptc pathway. Dh also has polydactyly. mostly the preaxial type of triphalanx, oligodactyly or syndactyly in addition to tibial hemimelia in an autosomal dominant way. We are cloning the gene by positional cloning.

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