A new study using mouse "knockouts" shows that genes that control limb formation in insects have similar functions in mammals.
Split hand/foot malformation (SHFM) or ectrodactyly (the "lobster claw" anomaly), is a severe congenital malformation syndrome characterised by a profound median cleft of the hands and/or feet, typically associated with absence or fusion of the remaining fingers. This condition is quite frequent as about 6 cases of SHFM are observed for every 10,000 human births.
Several forms of SHFM are each associated with a different genetic mutation. One of the most frequent forms called Type I is associated with a specific region of human chromosome 7 that contains two homeobox genes, DLX5 and DLX6. These genes are similar to a gene in insects called distal-less that controls limb development. When this gene is defective in the fruit fly the distal part of the insect limb is missing. It was therefore assumed that DLX5 and DLX6 might have conserved this function through evolution and could have a role in vertebrate limb development. However, in spite of intensive searches for mutations of these genes in SHFM patients, no direct evidence was found to date on their involvement in mammalian limb development.
Joanna Gibson | alphagalileo
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