MOLECULAR ANALYSIS OF CANCER FAMILY SYNDROME

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(1) We showed thati in Epstein-Barr-virus transformed lymphoblastoid cell lines and lymphoma cells from BS patients, telomerase activity was detected as compared with the control. BLM is not a major structural and regulatory factor in maintaining telomere repeat length and telomerase activity(2) We showed that the Arg^<1344>-Ser^<1345>-Lys^<1346>-Arg^<1347> sequence at the C-terminus of the human BLM protein was essential for nuclear localization of this protein.(3) We demonstrated that immunoblot analysis using EBV-transformed or PHA-stimulated lymphoblastas represented a useful approach for laboratory diagnosis for A-T.(4) We showed that the N-terminal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1.