Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

• Published in: Nature (London) 1993-06, Vol.363 (6429), p.515-521
• Main Authors: Rouleau, Guy A, Merel, Philippe, Lutchman, Mohini, Sanson, Marc, Zucman, Jessica, Marineau, Claude, Hoang-Xuan, Khé, Demczuk, Suzanne, Desmaze, Chantal, Plougastel, Béatrice, Pulst, Stefan M, Lenoir, Gilbert, Bijlsma, Emilia, Fashold, Raimund, Dumanski, Jan, Jong, Pieter de, Parry, Dilys, Eldrige, Roswell, Aurias, Alain, Delattre, Olivier, Thomas, Gilles
• Format: Article
• Language: English
• Subjects: Amino Acid Sequence; Animals; Base Sequence; Biological and medical sciences; Cell Line; Chromosome Deletion; Chromosomes, Human, Pair 22; Cloning, Molecular; DNA, Neoplasm; gene products; Genes; Genes, Neurofibromatosis 2; Germ Cells; HeLa Cells; Humans; Hybrid Cells; man; Medical research; Medical sciences; Membrane Proteins - genetics; Mice; Molecular Sequence Data; Mutation; Neoplasm Proteins - genetics; Nervous system; Neurofibromin 2; Neurology; nucleotide sequence; Point Mutation; predictions; Recklinghausen's disease; Restriction Mapping; Sequence Homology, Amino Acid; Tumor Cells, Cultured; tumor suppressor genes; Tumors; Tumors of the nervous system. Phacomatoses
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/363515a0

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton interface, a previously unknown site of action of tumour suppressor genes in humans.