Article
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Human mutation - 1 Jun 2004
Tomatsu Shunji, Orii Koji O, Bi Y, Gutierrez Monica A, Nishioka Tatsuo, Yamaguchi Seiji, Kondo Naomi, Orii Tadao, Noguchi Akihiko, Sly William S
Abstract excerpt
The methylation pattern at CpG sites of a housekeeping gene correlates with the likelihood of mutation. Mucopolysaccharidosis (MPS) type II, an X-linked disorder, results from the deficiency of iduronate-2-sulfatase (IDS). In these patients, over 35% of independent point mutations at the IDS gene locus were found at CpG sites as transitional events. To gain insight into the relationship between methylation status...
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