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Gene Review:

Ps - polysyndactyly

Mus musculus

Johnson, E.B. et al., Hollander, W.F. et al., Zguricas, J. et al., Tsukurov, O. et al., MacDonald, B.T. et al., et al.

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Disease relevance of Ps

We demonstrated that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family [1].
A similar autosomal recessive defect may also occur in man, where polysyndactyly, in combination with craniofacial abnormalities, is also part of a common genetic syndrome [2].

High impact information on Ps

doubleridge is a transgene-induced mouse mutation displaying forelimb postaxial polysyndactyly [3].
We have used the polysyndactyly (Ps) mutation further to localize Lps on chromosome 4 [4].
Recently, a gene responsible for preaxial polydactyly types II and III, as well as complex polysyndactyly, has been localised to chromosome 7q36 [5].
Linkage tests of the mutant, symbolized mea, place it fairly close to brown, b, in chromosome 4, and apparently in the small segment between Ps and Pt [6].

References

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36. Tsukurov, O., Boehmer, A., Flynn, J., Nicolai, J.P., Hamel, B.C., Traill, S., Zaleske, D., Mankin, H.J., Yeon, H., Ho, C. Nat. Genet. (1994) [Pubmed]
Abnormal development of the apical ectodermal ridge and polysyndactyly in Megf7-deficient mice. Johnson, E.B., Hammer, R.E., Herz, J. Hum. Mol. Genet. (2005) [Pubmed]
Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. MacDonald, B.T., Adamska, M., Meisler, M.H. Development (2004) [Pubmed]
The genetic mapping of a defective LPS response gene in C3H/HeJ mice. Watson, J., Kelly, K., Largen, M., Taylor, B.A. J. Immunol. (1978) [Pubmed]
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. Zguricas, J., Heus, H., Morales-Peralta, E., Breedveld, G., Kuyt, B., Mumcu, E.F., Bakker, W., Akarsu, N., Kay, S.P., Hovius, S.E., Heredero-Baute, L., Oostra, B.A., Heutink, P. J. Med. Genet. (1999) [Pubmed]
Meander tail: a recessive mutant located in chromosome 4 of the mouse. Hollander, W.F., Waggie, K.S. J. Hered. (1977) [Pubmed]

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