Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2.
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.
Rouleau
G A
GA
Centre de recherche en Neuroscience, McGill University, Montreal, Quebec, Canada.
Merel
P
P
Lutchman
M
M
Sanson
M
M
Zucman
J
J
Marineau
C
C
Hoang-Xuan
K
K
Demczuk
S
S
Desmaze
C
C
Plougastel
B
B
D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003001:Cloning, Molecular; D004273:DNA, Neoplasm; D016515:Genes, Neurofibromatosis 2; D005854:Germ Cells; D006367:HeLa Cells; D006801:Humans; D006822:Hybrid Cells; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D025581:Neurofibromin 2; D017354:Point Mutation; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D014407:Tumor Cells, Cultured
D004273:DNA, Neoplasm; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D025581:Neurofibromin 2