Scientists discover second gene for disorder described by Darwin

protein component inside the cell must crosslink with two identical sister molecules in order to throw the switch that relays the message.

According to Zonana's hypothesis, a mutation affecting the external portion of the protein would wipe out the signal-binding activity of one gene product, but the presence of a second normal gene could compensate for the loss. This type of mutation would require a defective gene from each parent in order to produce abnormal development. However, if the mutation affects the internal portion, the result is similar to the "one bad apple spoiling the barrel" phenomenon. The defective piece of protein inside the cell could bind up functional sister molecules, essentially short-circuiting the switch mechanism and aborting the message to the nucleus. In this scenario, the mutated gene dominates the role of the normal gene.

This is not the only interesting genetic aspect of hypohidrotic ectodermal dysplasia. How can the ED1 gene on the X-chromosome and the DL gene on chromosome 2 produce essentially the same disorder? Again, says Zonana, the answer may lie in the projected structures of the protein products. The proteins coded by the ED1 and DL genes bear similarities to a signaling molecule (the ED1 protein) and its receptor (the DL protein). The researchers propose that both proteins may interact with one another as part of a continuous molecular pathway--a mutation affecting either protein interrupts the pathway, leading to the same developmental abnormalities.

Yet, even with the discovery of the DL gene, the hypohidrotic ectodermal dysplasia story is still evolving. Not all of the families screened for a defective DL gene had mutations, therefore it appears that additional gene(s) await discovery. Zonana and other researchers are presently hot on the trail of a human gene that is the equivalent of the mouse "crinkled" gene, which lies on mouse chromosome 13 and also produces ectodermal dysplasia-like symptoms. <

Contact: Wayne Little
NIH/National Institute of Dental and Craniofacial Research

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