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MUTATIONS IN HOXD13 INDUCES SYNPOLYDACTYLY
Hox genes are implicated in the development of limbs and are thought to be involved in determination of the timing as well as the extent of local growth rates.In the April 26, 1996 issue of Science, Muragaki et al describe that the, malformation of limbs in humans called synpolydactyly, is caused by in-frame expansions of a polyalanine stretch in the NH2 terminal of the HOXD13. The malformation of hands amd feet in affected individuals consists of transformation of the metacarpal and metatarsal bones to short carpal and tarsal-like bones. REFERENCES: Muragaki Y, Mundlos S, Upton J, Olsen BR: Altered growth and branching patterns in synpolydactyly caused by mutatiions in HOSD13. Science 272, 548-551, 1996
Gene Map Locus: 2q31-q32 |
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There are four clusters of homeobox genes in the vertebrates. These genes (HoxA, HoxB, HoxC and HoxD) have been conserved in terms of both the amino acid homology as well as their functional role through evolution and share a common ancestry with the Hom-C in the Drosophila. A remarkable feature of these genes is that the genes located within the 3' of the cluster are expressed earlier and more anteriorly during development than those that are located near the 5' end of the cluster. At least two distinct regions are recognized within the Hox genes. A 3' region consisting of 180 base pairs, the so-called homeobox region that encodes a DNA binding motif designated as homeodomain. A second region in the 5' end seems to be involved in interaction with other proteins. 
![[OMIM]](../../images/omim.gif)
