Article
HD CAG-correlated gene expression changes support a simple dominant gain of function.
Human molecular genetics - 15 Jul 2011
Jacobsen Jessie C, Gregory Gillian C, Woda Juliana M, Thompson Morgan N, Coser Kathryn R, Murthy Vidya, Kohane Isaac S, Gusella James F, Seong Ihn Sik, MacDonald Marcy E, Shioda Toshi, Lee Jong-Min
Abstract excerpt
Huntington's disease is initiated by the expression of a CAG repeat-encoded polyglutamine region in full-length huntingtin, with dominant effects that vary continuously with CAG size. The mechanism could involve a simple gain of function or a more complex gain of function coupled to a loss of function (e.g. dominant negative-graded loss of function). To distinguish these alternatives, we compared genome-wide gene...
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