The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene

Human Mutation
M E Baser, Contributors to the International NF2 Mutation Database

Abstract

Constitutional heterozygous inactivating mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene cause the autosomal dominant disease NF2, and biallelic inactivating somatic NF2 mutations are found in a high proportion of unilateral sporadic vestibular schwannoma (USVS) and sporadic meningioma. We surveyed the distributions of constitutional NF2 mutations in 823 NF2 families, 278 somatic NF2 mutations in USVS, and 208 somatic NF2 mutations in sporadic meningioma. Based on the available NF2 mutation data, the most dominant influence on the spectra of mutations in exons 1-15 are C>T transitions that change arginine codons (CGA) to stop codons (TGA) due to spontaneous deamination of methylcytosine to thymine in CpG dinucleotides. The paucity of reported mutations in exon 9 and the absence of reported mutations in exons 16 and 17 may be related to structure-function relationships in the NF2 protein.

References

Nov 21, 1995·Proceedings of the National Academy of Sciences of the United States of America·A B BianchiJ R Testa
Jul 1, 1995·Genes, Chromosomes & Cancer·P MérelX Estivill
Mar 1, 1994·Human Molecular Genetics·L B JacobyV Ramesh
Jan 1, 1994·Human Molecular Genetics·E C TwistG A Rouleau
May 1, 1996·Neurosurgery·V F MautnerS M Pulst
Aug 1, 1996·American Journal of Human Genetics·M H RuttledgeG A Rouleau
May 30, 1998·American Journal of Medical Genetics·L KluweV F Mautner
Jul 31, 1998·American Journal of Human Genetics·M KrawczakD N Cooper
Nov 18, 1998·Human Molecular Genetics·L Kluwe, V F Mautner
Nov 18, 1998·Human Molecular Genetics·J Zucman-RossiG Thomas
Nov 24, 1999·The Journal of Biological Chemistry·C Gonzalez-AgostiV Ramesh
Mar 11, 2000·American Journal of Human Genetics·R P Stokowski, D R Cox
Jul 19, 2001·Proceedings of the National Academy of Sciences of the United States of America·M Bzymek, S T Lovett
Jan 5, 2002·The Journal of Biological Chemistry·Toshiyuki ShimizuToshio Hakoshima
Feb 22, 2002·Acta Crystallographica. Section D, Biological Crystallography·Beom Sik KangZygmunt S Derewenda
Mar 22, 2002·Nature Reviews. Cancer·A G Knudson
Aug 3, 2002·Nature Reviews. Molecular Cell Biology·Anthony BretscherRichard G Fehon
Oct 3, 2002·Journal of Cell Science·Chun-Xiao SunDavid H Gutmann
Oct 18, 2002·Genetic Epidemiology·Y ZhaoJ M Friedman
Dec 11, 2002·Neurology·M E BaserD G R Evans
Aug 20, 2003·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Caisa M HanssonJan P Dumanski
Oct 22, 2003·Journal of Medical Genetics·M E BaserD G R Evans
May 5, 2004·Proceedings of the National Academy of Sciences of the United States of America·Andrei SeluanovVera Gorbunova
May 21, 2004·Nature Reviews. Neuroscience·Vijaya Ramesh
Jun 11, 2004·American Journal of Human Genetics·Michael E BaserD Gareth R Evans
Sep 2, 2004·The Journal of Biological Chemistry·Brigette TippinMyron F Goodman
Dec 16, 2004·Proceedings of the National Academy of Sciences of the United States of America·Rong RongKeqiang Ye
Dec 21, 2004·Genes, Chromosomes & Cancer·Jesus LomasJuan A Rey

❮ Previous
Next ❯

Citations

Dec 14, 2011·Acta Neuropathologica·Steven L Carroll
Jan 13, 2012·International Journal of Clinical Oncology·Tohru TsujimuraTakashi Nakano
Mar 1, 2008·Environmental Health and Preventive Medicine·Yoshitaka Sekido
Nov 29, 2012·European Journal of Human Genetics : EJHG·Elisabeth CastellanosUNKNOWN NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC
Aug 5, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D Gareth R Evans
Apr 1, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael E BaserD Gareth R Evans
Sep 8, 2007·Current Opinion in Otolaryngology & Head and Neck Surgery·D Bradley WellingLong-Sheng Chang
Jun 24, 2009·Orphanet Journal of Rare Diseases·D Gareth R Evans
Mar 20, 2012·Yi chuan = Hereditas·Chuan-Ming Xu, Fu-Sheng Wan
Dec 17, 2009·Expert Opinion on Therapeutic Targets·Christopher A Lipinski, Joseph C Loftus
Sep 21, 2010·Clinical Toxicology : the Official Journal of the American Academy of Clinical Toxicology and European Association of Poisons Centres and Clinical Toxicologists·Marcello LottiBruno Murer
Apr 20, 2007·Trends in Cell Biology·Tomoyo OkadaFilippo G Giancotti
Feb 14, 2012·Journal of Cellular and Molecular Medicine·Minja LaulajainenMikaela Grönholm
Jan 24, 2014·Brain Pathology·David A Hilton, Clemens Oliver Hanemann
May 27, 2010·American Journal of Medical Genetics. Part a·Miriam J SmithD Gareth Evans
Feb 5, 2013·Molecular and Cellular Endocrinology·Anna Biason-LauberChrista E Flück
Dec 9, 2009·Clinical Genetics·S K SelvanathanD G Evans
Jun 8, 2015·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Maurits de VriesPancras C W Hogendoorn
Jun 30, 2009·Journal of Neuro-oncology·Anne DurandJacques Guyotat
Aug 27, 2018·Cancer Microenvironment : Official Journal of the International Cancer Microenvironment Society·Prasanth S AriyannurAshok B Pillai
May 24, 2012·Molecular Cancer Research : MCR·Gilson S BaiaGregory J Riggins
Jan 20, 2011·Cancer Research·Hideki MurakamiYoshitaka Sekido
Jan 16, 2021·International Journal of Molecular Sciences·Suha BachirSoma Sengupta

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.