MOLECULAR PATHOLOGY IN DISEASES WITH DNA STRAND BREAKS AND REPAIR DEFECTS.

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Activation-Induce Cytidine Deaminase (AID) is an essential molecule for immunoglobulin class switching in B cells, and the mutation of AID is responsible for hyper-IgM syndrome type II. We identified 12 Japanese patients with hyper-IgM syndrome type II. We found R190X mutation has a dominant negative function against wild type AID.ATM is a gene involved in the pathogenesis of Ataxia Telangiectasia and plays an important role in genome surveillance system. We found germ line ATM mutation in a case with acute leukemia with MLL gene rearrangement. This mutation also had a dominant negative function against wild type ATM, suggesting an important link between ATM dysfunction and MLL gene rearrangement in childhood leukemia. We found Ku70/80 auguments TCF/beta-catenin dependent transactivation and positively regulates CD23 expression.