Article
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.
Nature genetics - 1 Aug 1994
Rubinsztein D C, Amos W, Leggo J, Goodburn S, Ramesar R S, Old J, Bontrop R, McMahon R, Barton D E, Ferguson-Smith M A
Abstract excerpt
Huntington's disease (HD) correlates with abnormal expansion in a block of CAG repeats in the Huntington's disease gene. We have investigated HD evolution by typing CAG alleles in several human populations and in a variety of primates. We find that human alleles have expanded from a shorter ancestral state and exhibit unusual asymmetric length distributions. Computer simulations are used to show that the human...
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