Edited by: Paul Smaglik and Eugene Russo
O. Zhuchenko, J. Bailey, P. Bonnen, T. Ashizawa, D.W. Stockton, C. Amos, W.B. Dobyns, S.H. Subramony, H.Y. Zoghbi, C.C. Lee, "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha(1A)-voltage-dependent calcium channel," Nature Genetics, 14:62-9, January 1997. (Cited in more than 210 papers since publication)
Comments by Cheng Chi Lee, assistant professor, molecular and human genetics, Baylor College of Medicine, and S.H. Subramony, professor and vice chairman, neurology, University of Mississippi School of Medicine
Sometimes, to go forward, you have to work backward. Cheng Chi Lee and colleagues did just that in identifying the SCA6 gene. Rather than adapt the traditional method of positional cloning--identifying a gene based on a family, pinning it to a general map, identifying a chromosome, then working toward a specific location--they started with what they knew. "They decided to look...