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• W2030352564 abstract "The heritability of B cell chronic lymphocytic leukemia (CLL) is relatively high; however, no predisposing mutation has been convincingly identified. We show that loss or reduced expression of death-associated protein kinase 1 (DAPK1) underlies cases of heritable predisposition to CLL and the majority of sporadic CLL. Epigenetic silencing of DAPK1 by promoter methylation occurs in almost all sporadic CLL cases. Furthermore, we defined a disease haplotype, which segregates with the CLL phenotype in a large family. DAPK1 expression of the CLL allele is downregulated by 75% in germline cells due to increased HOXB7 binding. In the blood cells from affected family members, promoter methylation results in additional loss of DAPK1 expression. Thus, reduced expression of DAPK1 can result from germline predisposition, as well as epigenetic or somatic events causing or contributing to the CLL phenotype." @default.
• W2030352564 created "2016-06-24" @default.
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• W2030352564 date "2007-06-01" @default.
• W2030352564 modified "2023-10-15" @default.
• W2030352564 title "Downregulation of Death-Associated Protein Kinase 1 (DAPK1) in Chronic Lymphocytic Leukemia" @default.
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• W2030352564 doi "https://doi.org/10.1016/j.cell.2007.03.043" @default.
• W2030352564 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4647864" @default.
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• W2030352564 hasPublicationYear "2007" @default.
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