Disease relevance of Genes, Neurofibromatosis 2

• Mutations in the neurofibromatosis type 2 (NF2) gene predispose individuals to the development of nervous system tumors and ocular abnormalities [1].
• In this study, we have evaluated neurofibromatosis type 2 (NF2) gene alterations in eight PNTs using archival formaldehyde-fixed, paraffin-embedded tissue [2].
• Biallelic mutations in the neurofibromatosis 2 (NF2) gene are linked to schwannoma and meningioma tumorigenesis [3].
• We investigated aberrations of the neurofibromatosis type 2 (NF2) gene in breast tumors of 60 patients by single-strand conformation polymorphism analysis of polymerase chain reaction products followed by nucleotide sequencing [4].
• Most benign brain tumors are associated with loss of the Nf2 gene tumor suppressor product schwannomin/merlin [5].

High impact information on Genes, Neurofibromatosis 2

• The neurofibromatosis-2 (NF2) gene encodes merlin, an ezrin-radixin-moesin-(ERM)-related protein that functions as a tumor suppressor [6].
• In two samples that showed NF2 gene transcript alterations, no genomic DNA mutations were detected, suggesting that aberrant splicing may constitute an additional mechanism for merlin inactivation [7].
• Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development [8].
• The effect of quinidine on the proliferation of HMM cell lines appears to be correlated with the NF2 gene status but not with the K(+) outward current [9].
• We have developed two Meta-PCR assays, one comprising exons 6-10 of the Neurofibromatosis type 2 (NF2) gene and the second exons 8-12 of the human mismatch repair gene, hMLH1 [10].

Biological context of Genes, Neurofibromatosis 2

• The NF2 gene has recently been isolated on chromosome 22 and encodes a putative membrane organizing protein named schwannomin [11].
• A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected] [12].
• The candidate tumor suppressor gene on 22q is the neurofibromatosis 2 (NF2) gene [13].

Anatomical context of Genes, Neurofibromatosis 2

• The neurofibromatosis 2 (NF2) gene product, merlin, encodes a 595 amino acid protein with sequence similarity to a family of proteins linking cell membrane proteins to the cytoskeleton [8].
• The NF2 gene product, merlin, links transmembrane proteins to the cytoskeleton and is involved in intracellular signaling processes [14].
• Germ-line mutations in the neurofibromatosis 2 (NF2) gene cause a susceptibility to the development of schwannoma and meningioma, 2 mostly benign tumors of neural crest origin [15].

Gene context of Genes, Neurofibromatosis 2

• The neurofibromatosis type 2 gene (NF2) is involved in the pathogenesis of benign tumors of the human nervous system [16].
• The NF2 gene was recently cloned and found to encode a protein, schwannomin (or merlin), with homology to the band 4.1 superfamily [17].
• This suggests that PGD is a useful approach for avoiding the birth of children with inherited cancer predisposition, determined by NF1 and NF2 gene mutations [18].
• The GTPase signalling molecules RhoA and Rac1 regulate merlin function, but to date only mutation in the NF2 gene has been identified as a causal event in schwannoma formation [19].
• The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins) [20].

Analytical, diagnostic and therapeutic context of Genes, Neurofibromatosis 2

• Assignment of the neurofibromatosis 2 (Nf2) gene to rat chromosome bands 14q21-->q22 by in situ hybridization [21].
• Maternal mutation Trp-->Ter (TGG-->TGA) in exon 29 of the NF1 gene was tested by sequential PCR analysis of the first and second polar bodies, and paternal L141P mutation in exon 4 of the NF2 gene by embryo biopsy at the cleavage stage [18].

References