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

@article{Rouleau1993AlterationIA,
  title={Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2},
  author={Guy A. Rouleau and Philippe M{\'e}rel and Mohini Lutchman and Marc Sanson and Jessica Zucman and Claude Marineau and Khe Hoang-Xuan and Suzanne Demczuk and Chantal Desmaze and Beatrice F. M. Plougastel and Stefan M. Pulst and Gilbert M. Lenoir and Emilia K. Bijlsma and Raimund Fashold and Jan P. Dumanski and Pieter J. de Jong and Dilys M. Parry and Roswell Eldrige and Alain Aurias and Olivier Delattre and Gilles D. Thomas},
  journal={Nature},
  year={1993},
  volume={363},
  pages={515-521}
}
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… 
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types
TLDR
A novel isoform of the NF2 transcript that shows differential tissue expression and encodes a modified C terminus of the predicted protein, providing evidence that alterations in theNF2 transcript occur not only in the hereditary brain neoplasms typically associated with NF2, but also as somatic mutations in their sporadic counterparts and in seemingly unrelated tumours.
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.
TLDR
Two unrelated NF2 patients were found to have identical nonsense mutations caused by a C-to-T transition in a CpG dinucleotide that is a potential mutational hot spot in the NF2 tumor-suppressor gene.
Role of the neurofibromatosis type 2 gene in the development of tumors of the nervous system.
TLDR
Some of the most significant findings in NF2 genetics and biology over the last decade are described, including studies of patients with mosaicism and phenotype-genotype correlations.
Structural Basis for Neurofibromatosis Type 2
TLDR
The structure reveals that the merlin FERM domain consists of three subdomains displaying notable features of the electrostatic surface potentials, although the overallsurface potentials similar to those of ezrin/radixin/moesin (ERM) proteins indicate electrostatic membrane association.
Low Incidence of a Nucleotide Sequence Alteration of the Neurofibromatosis 2 Gene in Human Breast Cancers
TLDR
The results indicated possible but infrequent involvement of mutations of the tumor suppressor NF2 gene in human breast cancers.
NF2 gene in neurofibromatosis type 2 patients.
TLDR
The deduced entire genomic sequence of the NF2 gene has provided the delineation of a mutation screening strategy which has revealed a high recurrence of large deletions in the gene and raised the efficiency of mutation detection in NF2 patients to 84% of the cases in this series.
The tumour suppressor protein NF2/merlin:the puzzle continues
TLDR
Homology analysis indicates that merlin is most closely related to members of the protein 4.1 superfamily especially ezrin, radixin and moesin, the ERM proteins, which link membrane proteins to the cytoskeleton.
Screening for germ‐line mutations in the NF2 Gene
TLDR
A screening method for the detection of point mutations in NF2 which takes advantage of denaturing gradient gel electrophoresis (DGGE) and efficiently screens 95% of the coding sequence and 90% of intron/exon junctions.
Mild familial neurofibromatosis 2 associates with expression of merlin with altered COOH-terminus
TLDR
The mutational skip of exon 15 and the expression of a protein with the COOH-terminus of isoform III correlates with the exceptionally mild NF2, and suggests tumor suppressor activity forisoform III.
...
...

References

SHOWING 1-10 OF 39 REFERENCES
Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.
TLDR
Linkage analysis of 15 Utah kindreds demonstrated that a gene responsible for von Recklinghausen neurofibromatosis is located near the centromere on chromosome 17, indicating that a significant proportion of NF cases are due to mutations at a single locus.
Neurofibromatosis type 2 appears to be a genetically homogeneous disease.
TLDR
The results confirm the assignment of the gene for NF2 to chromosome 22 and do not support the hypothesis of genetic heterogeneity, and believe that chromosome 22 markers can now be used for presymptomatic diagnosis in selected families.
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
TLDR
Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the translocation.
Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.
The first 14 exons of the APC gene have been screened by the denaturation gradient gel electrophoresis method in 160 unrelated patients with familial adenomatous polyposis coli (APC) syndrome. Four
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
TLDR
The genetic localization of the primary BANF defect strongly supports the concept that the disease locus encodes a 'tumour suppressor' gene, and should provide insights into the pathogenesis of acoustic neuromas and other nervous system tumours.
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma
TLDR
It is suggested that a common event underlies tumorigenesis in acoustic neuroma and meningioma, and this finding might provide a clue to the chromosomal location of the defective gene in bilateral acoustic neurofibromatosis, an auto-somal dominant disorder with the hallmark of bilateral acoustic neuromas.
Molecular genetic approach to human meningioma: loss of genes on chromosome 22.
TLDR
It is proposed that a common mechanism involving chromosome 22 is operative in the development of both tumor types and fine-structure mapping to reveal partial deletions in meningiomas may provide the means to clone and characterize a gene of importance for tumorigenesis in this and possibly other clinically associated tumors of the human nervous system.
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.
TLDR
Data are presented which suggest that there are two types of NF2, one with later onset and bilateral bilateral schwannomas as the only usual feature, and the other with earlier onset and multiple other tumours.
...
...