A DNA double strand break repair protein, Nibrin, and related DNA useful for diagnosis and therapy of Nijmegen Breakage Syndrome and other diseases influenced by DNA-double-strand break repair

摘要

A DNA double strand break repair protein, Nibrin, comprises a 754 residue amino acid sequence, or a protein where one or more amino acids vary in the amino acid sequence and which is suitable as a repair protein and its DNA sequence hybridizes with the 4386 bp sequence, both sequences fully defined in the specification. Independent claims are also included for the following: (1) a DNA encoding Nibrin of the novelty; (2) a DNA suitable for detection of Nibrin sequences comprising one of 56 sequences, all fully defined in the specification; (3) an expression plasmid comprising DNA as in (1); (4) a transformant containing the expression plasmid of (3); (5) a method of producing Nibrin, comprising cultivating the transformant of (4) under suitable conditions; and (6) an antibody directed against Nibrin.