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-li...

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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
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cited_by cdi_FETCH-LOGICAL-c395t-b4e1a4775402a49cf1f7b5a83568ce2485cdb5a6162d76b09db9dead6e65417e3
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container_end_page 521
container_issue 6429
container_start_page 515
container_title Nature (London)
container_volume 363
creator 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
description 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.
doi_str_mv 10.1038/363515a0
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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. 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identifier ISSN: 0028-0836
ispartof Nature (London), 1993-06, Vol.363 (6429), p.515-521
issn 0028-0836
1476-4687
language eng
recordid cdi_proquest_miscellaneous_75786630
source Nature_系列刊
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
title Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2
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