New mutant nucleic acid encoding the human MSH3 protein, useful e.g. for diagnosis and treatment of neoplasia, also for drug discovery

摘要

Nucleic acid (I), or fragment of it, that encodes the human mismatch repair gene MSH3 protein and has a sequence that differs from the reference sequence by mutation at at least one specific position, is new. Nucleic acid (I), or fragment of it, that encodes the human mismatch repair gene MSH3 protein and has a sequence that differs from the reference sequence by mutation at at least one specific position is new. The specified positions are: (a) -382, -151, -144, -50, -39 and/or -35 in the 5'-untranslated region (UTR); (b) exon 1, -151; (c) intron 2, +40, +76 and/or -7; (d) intron 3, +59; (e) intron 4, +50; (f) intron 5, +151; (g) intron 8, +71; (h) intron 9, +61; (i) intron 12, +98; (j) intron 20, -103; (k) intron 21, -29 and/or -22; (l) intron 23, +64 and/or (m) 3'-UTR, +898. Independent claims are also included for: (1) a vector that contains (I); (2) a host cell transfected with the vector of (1); (3) diagnosing a disease (or predisposition) associated with MSH3, or for predicting progression, severity and/or survival time; (4) diagnosing MSH3-dependent resistance to chemotherapy; (5) diagnostic kit for methods (3) and (4); (6) identifying a compound for treatment or prevention of MSH3-associated diseases; and (7) use of a vector that contains the MSH3 reference sequence, or part of it, for gene therapy.