Biological characterization of ADAM22 variants reveals the importance of a disintegrin domain sequence in cell surface expression

Journal of Receptors and Signal Transduction

Volumn 30, Issue 2, 2010, Pages 72-77

  Sagane, Koji ^a,b   Sugimoto, Hachiro ^b   Akaike, Akinori ^b  

^a EISAI CO LTD   (Japan)

^b KYOTO UNIVERSITY   (Japan)

Author keywords

ADAM22; Disintegrin; Epilepsy; LGI1; LGI4; Myelination

Indexed keywords

ADAM22 PROTEIN; DISINTEGRIN; LEUCINE RICH GLIOMA INACTIVATED 1; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BIOLOGICAL TRAIT; CELL SURFACE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HELA CELL; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; NUCLEOTIDE SEQUENCE; PROCESSING; WILD TYPE;

ADAM PROTEINS; CELL MEMBRANE; DISINTEGRINS; ENZYME-LINKED IMMUNOSORBENT ASSAY; EXTRACELLULAR MATRIX PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; HELA CELLS; HUMANS; IMMUNOBLOTTING; IMMUNOPRECIPITATION; MUTATION; NERVE TISSUE PROTEINS; PROTEIN BINDING; PROTEIN PROCESSING, POST-TRANSLATIONAL;

MUS;

EID: 77949893764     PISSN: 10799893     EISSN: 15324281     Source Type: Journal    
DOI: 10.3109/10799891003614790     Document Type: Article

References (19)

1. Seals DF, Courtneidge SA. The ADAMs family of metalloproteases: multidomain proteins with multiple functions. Genes Dev 2003;17:7-30.
2. White JM. ADAMs: modulators of cell-cell and cell-matrix interactions. Curr Opin Cell Biol 2003;15:598-606.
3. Yang P, Baker KA, Hagg T. The ADAMs family: coordinators of nervous system development, plasticity and repair. Prog Neurobiol 2006;79:73-94.
4. Sagane K, Ohya Y, Hasegawa Y, Tanaka I. Metalloproteinaselike, disintegrin-like, cysteine-rich proteins MDC2 and MDC3: novel human cellular disintegrins highly expressed in the brain. Biochem J 1998;334 (Pt 1):93-98
5. Sagane K, Hayakawa K, Kai J, et al. Ataxia and peripheral nerve hypomyelination in ADAM22-deficient mice. BMC Neurosci 2005;6:33.
6. Fukata Y, Adesnik H, Iwanaga T, Bredt DS, Nicoll RA, Fukata M. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 2006;313:1792-1795
7. Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002;30:335-341
8. Michelucci R, Pasini E, Nobile C. Lateral temporal lobe epilepsies: clinical and genetic features. Epilepsia 2009;50(Suppl 5): 52-54
9. Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum Mutat 2009;30:530-536
10. Sagane K, Ishihama Y, Sugimoto H. LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11. Int J Biol Sci 2008;4: 387-396
11. Fernández E, Collins MO, Uren RT, et al. Targeted tandem affinity purification of PSD-95 recovers core postsynaptic complexes and schizophrenia susceptibility proteins. Mol Syst Biol 2009; 5:269.
12. Han K, Kim E. Synaptic adhesion molecules and PSD-95. Prog Neurobiol 2008;84:263-283
13. Klemmer P, Smit AB, Li KW. Proteomics analysis of immuno- precipitated synaptic protein complexes. J Proteomics 2009;72:82-90.
14. Bermingham JR Jr, Shearin H, Pennington J, et al. The claw paw mutation reveals a role for Lgi4 in peripheral nerve development. Nat Neurosci 2006;9:76-84.
15. Chabrol E, Gourfinkel-An I, Scheffer IE, et al. Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Epilepsy Res 2007;76:41-48
16. Diani E, Di Bonaventura C, Mecarelli O, et al. Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins. Epilepsy Res 2008;80:1-8.
17. Eto K, Huet C, Tarui T, et al. Functional classification of ADAMs based on a conserved motif for binding to integrin alpha 9beta 1: implications for sperm-egg binding and other cell interactions. J Biol Chem 2002;277:17804-17810
18. Gu W, Sander T, Becker T, Steinlein OK. Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. Neurogenetics 2004;5:41-44.
19. Ishii A, Zhang B, Kaneko S, Hirose S. Positive association between benign familial infantile convulsions and LGI4. Brain Dev 2010;In Press.