Commentary
Journal of Investigative Dermatology (2006) 126, 949–951. doi:10.1038/sj.jid.5700220
"Out, Damned Spot!"
Richard A Spritz1
1Human Medical Genetics Program, University of Colorado Health Sciences Center, Aurora, Colorado, USA
Correspondence: Dr. Richard A. Spritz, Human Medical Genetics Program, University of Colorado Health Sciences Center, Mail-stop 8300, PO Box 6511, Aurora, Colorado 80045, USA. E-mail: richard.spritz@uchsc.edu
Abstract
Mice transgenic for the Kit Val620Ala mutation, which in humans has been associated with progressive piebaldism, exhibit dominant white spotting but show no evidence of progressive depigmentation. These results are consistent with the previous hypothesis that progressive piebaldism might result from digenic inheritance, of the KITV620A mutation that causes piebaldism and a second, unknown locus that causes progressive depigmentation.
