Impaired interaction of naturally occurring mutant NF2 protein with actin-based cytoskeleton and membrane

Human Molecular Genetics
B DeguenG Thomas

Abstract

Although schwannomin, the product of the neurofibromatosis type 2 gene, shares homology with three cytoskeleton-to-membrane protein linkers defining the ERM family, the mechanism by which it exerts a tumor suppressive activity remains elusive. Based on the knowledge of naturally occurring mutations, a functional study of schwannomin was initiated. Constructs encoding the two wild-type isoforms and nine mutant forms were transfected into HeLa cells. Transiently expressed wild-type isoforms were both observed underneath the plasma membrane. At this location they were detergent insoluble and redistributed by a cytochalasin D treatment, suggesting interaction with actin-based cytoskeletal structures. Proteins with single amino acid substitutions at positions 219 and 220 demonstrated identical properties. Three different truncated schwannomins, that are prototypic for most naturally occurring NF2 mutations, were affected neither in their location nor in their cytochalasin D sensitivity. However, they were revealed to be detergent soluble, indicating a relaxed interaction with the actin-based structures. An increased solubility was also observed for a mutant with a single amino acid substitution at position 360 in the C-terminal half...Continue Reading

Citations

Dec 7, 2000·Journal of Neuroscience Research·M A den BakkerE C Zwarthoff
Nov 5, 1999·Human Molecular Genetics·Z Zhou, D Vollrath
Oct 14, 2000·Annual Review of Cell and Developmental Biology·A BretscherD Reczek
Dec 6, 2005·BMC Evolutionary Biology·Kseniya GolovninaLong-Sheng Chang
Sep 19, 2000·Journal of Neurogenetics·D J LimD E Weinstein
Jun 26, 2002·Neoplasia : an International Journal for Oncology Research·David H Gutmann, Marco Giovannini
Oct 31, 2002·Neoplasia : an International Journal for Oncology Research·S M MesserliX O Breakefield
Nov 6, 2007·Biochimica Et Biophysica Acta·Daniel R Scoles
Mar 11, 2000·American Journal of Human Genetics·R P Stokowski, D R Cox
Aug 15, 1998·Biochemical and Biophysical Research Communications·L HuangH Furthmayr
Mar 11, 2008·Cancer Cell·Johan JongsmaAnton Berns
Jul 29, 1998·International Journal of Cancer. Journal International Du Cancer·B DeguenG Thomas
Mar 4, 2014·Pesticide Biochemistry and Physiology·Riaz HussainFarah Ali
Jan 27, 2006·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Brian A NeffLong-Sheng Chang
Jul 16, 2002·Nature Genetics·Cristina Fernandez-ValleJared Iacovelli
Jul 20, 2002·The Journal of Biological Chemistry·Alexis GautreauMonique Arpin
Dec 10, 2002·The Journal of Biological Chemistry·Alexis GautreauMonique Arpin
Apr 8, 2018·Nature Communications·Krishna ChinthalapudiTina Izard
Apr 17, 2004·Cancer Research·John T StickneyWallace Ip
Aug 14, 1998·Neurobiology of Disease·C RosenbaumC O Hanemann

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