Orr Harry T
Institute of Human Genetics and the Department of Biochemistry, University of Minnesota, Minneapolis, Minnesota 55455, USA.
J Biol Chem. 2009 Mar 20;284(12):7405. doi: 10.1074/jbc.R800067200. Epub 2008 Oct 28.
Expansion of an unstable nucleotide repeat is a mutational mechanism that is apparently unique to humans and is known to cause a variety of neurological disorders. This collection of minireviews examines several of these unstable repeats, focusing on those where there is considerable molecular information on how the mutation alters function.
不稳定核苷酸重复序列的扩增是一种明显为人类所特有的突变机制,已知它会导致多种神经疾病。这组小型综述研究了其中几种不稳定重复序列,重点关注那些在突变如何改变功能方面有大量分子信息的序列。