Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Nature Genetics

Volumn 42, Issue 2, 2010, Pages 170-174

  Landouré, Guida ^a,b,c   Zdebik, Anselm A ^a   Martinez, Tara L ^d,e   Burnett, Barrington G ^b   Stanescu, Horia C ^a   Inada, Hitoshi ^f   Shi, Yijun ^b   Taye, Addis A ^b   Kong, Lingling ^d   Munns, Clare H ^d   Choo, Shelly S ^f   Phelps, Christopher B ^f   Paudel, Reema ^g   Houlden, Henry ^g   Ludlow, Christy L ^h   Caterina, Michael J ^d   Gaudet, Rachelle ^f   Kleta, Robert ^a   Fischbeck, Kenneth H ^b   Sumner, Charlotte J ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY OF BAMAKO   (Mali)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^f HARVARD UNIVERSITY   (United States)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h JAMES MADISON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; VANILLOID RECEPTOR 4;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DYSPLASIA; CHARCOT MARIE TOOTH DISEASE TYPE 2C; CHROMOSOME 12Q; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CRYSTAL STRUCTURE; CYTOTOXICITY; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; LARYNX MUSCLE; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; NEUROPATHY; PERIPHERAL NERVE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANKYRIN REPEAT; BASE SEQUENCE; CELL MEMBRANE; CHARCOT-MARIE-TOOTH DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ION CHANNEL GATING; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; NEUROTOXINS; PEDIGREE; PHENOTYPE; TRPV CATION CHANNELS; YOUNG ADULT;

EID: 75749139617     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.512     Document Type: Article

References (38)

1. Skre, H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6, 98-118 (1974).
2. Dyck, P.J. et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann. Neurol. 35, 608-615 (1994).
3. Santoro, L. et al. Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the frst European family. Neuromuscul. Disord. 12, 399-404 (2002).
4. McEntagart, M.E. et al. Confrmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann. Neurol. 57, 293-297 (2005).
5. Klein, C.J. et al. The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60, 1151-1156 (2003).
6. Rock, M.J. et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat. Genet. 40, 999-1003 (2008).
7. Krakow, D. et al. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am. J. Hum. Genet. 84, 307-315 (2009).
8. Facer, P. et al. Differential expression of the capsaicin receptor TRPV1 and related novel receptors TRPV3, TRPV4 and TRPM8 in normal human tissues and changes in traumatic and diabetic neuropathy. BMC Neurol. 7, 11 (2007).
9. Liedtke, W. et al. Vanilloid receptor-related osmotically activated channelVR-OAC), a candidate vertebrate osmoreceptor. Cell 103, 525-535 (2000).
10. Suzuki, M., Mizuno, A., Kodaira, K. & Imai, M. Impaired pressure sensation in mice lacking TRPV4. J. Biol. Chem. 278, 22664-22668 (2003). (Pubitemid 36830325)
11. Arniges, M., Fernandez-Fernandez, J.M., Albrecht, N., Schaefer, M. & Valverde, M.A. Human TRPV4 channel splice variants revealed a key role of ankyrin domains in multimerization and traffcking. J. Biol. Chem. 281, 1580-1586 (2006).
12. Vincent, F. et al. Identifcation and characterization of novel TRPV4 modulators. Biochem. Biophys. Res. Commun. 389, 490-494 (2009).
13. Voets, T. et al. Molecular determinants of permeation through the cation channel TRPV4. J. Biol. Chem. 277, 33704-33710 (2002).
14. Alessandri-Haber, N. et al. Hypotonicity induces TRPV4-mediated nociception in rat. Neuron 39, 497-511 (2003).
15. Güler, A.D. et al. Heat-evoked activation of the ion channel, TRPV4. J. Neurosci. 22, 6408-6414 (2002).
16. Watanabe, H. et al. Activation of TRPV4 channels hVRL-2/mTRP12) by phorbol derivatives. J. Biol. Chem. 277, 13569-13577 (2002).
17. Watanabe, H. et al. Anandamide and arachidonic acid use epoxyeicosatrienoic acids to activate TRPV4 channels. Nature 424, 434-438 (2003).
18. Vriens, J. et al. Cell swelling, heat, and chemical agonists use distinct pathways for the activation of the cation channel TRPV4. Proc. Natl. Acad. Sci. USA 101, 396-401 (2004).
19. Everaerts, W., Nilius, B. & Owsianik, G. The vallinoid transient receptor potential channel Trpv4: from structure to disease. Prog. Biophys. Mol. Biol. published online doi:10.1016/j.pbiomolbio.2009.10.002 14 October 2009.
20. Liedtke, W. Molecular mechanisms of TRPV4-mediated neural signaling. Ann. NY Acad. Sci. 1144, 42-52 (2008).
21. Phelps, C.B., Wang, R.R., Choo, S.S. & Gaudet, R. Differential regulation of TRPV1, TRPV3 and TRPV4 sensitivity through a conserved binding site on the ankyrin repeat domain. J. Biol. Chem. published online, doi:10.1074/jbc.M109.052548 28 October 2009.
22. Jin, X., Touhey, J. & Gaudet, R. Structure of the N-terminal ankyrin repeat domain of the TRPV2 ion channel. J. Biol. Chem. 281, 25006-25010 (2006).
23. Lishko, P.V., Procko, E., Jin, X., Phelps, C.B. & Gaudet, R. The ankyrin repeats of TRPV1 bind multiple ligands and modulate channel sensitivity. Neuron 54, 905-918 (2007).
24. Phelps, C.B., Huang, R.J., Lishko, P.V., Wang, R.R. & Gaudet, R. Structural analyses of the ankyrin repeat domain of TRPV6 and related TRPV ion channels. Biochemistry 47, 2476-2484 (2008).
25. Cuajungco, M.P. et al. PACSINs bind to the TRPV4 cation channel. PACSIN 3 modulates the subcellular localization of TRPV4. J. Biol. Chem. 281, 18753-18762 (2006).
26. Mattson, M.P. Calcium and neurodegeneration. Aging Cell 6, 337-350 (2007).
27. Tabuchi, K., Suzuki, M., Mizuno, A. & Hara, A. Hearing impairment in TRPV4 knockout mice. Neurosci. Lett. 382, 304-308 (2005).
28. Gevaert, T. et al. Deletion of the transient receptor potential cation channel TRPV4 impairs murine bladder voiding. J. Clin. Invest. 117, 3453-3462 (2007).
29. Clark, K., Middelbeek, J. & van Leeuwen, F.N. Interplay between TRP channels and the cytoskeleton in health and disease. Eur. J. Cell Biol. 87, 631-640 (2008).
30. Venkatachalam, K. et al. Motor defcit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. Cell 135, 838-851 (2008).
31. Becker, E.B. et al. A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc. Natl. Acad. Sci. USA 106, 6706-6711 (2009).
32. Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. & Lander, E.S. Parametric and nonparametric linkage analysis: a unifed multipoint approach. Am. J. Hum. Genet. 58, 1347-1363 (1996).
33. Sobel, E., Sengul, H. & Weeks, D.E. Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum. Hered. 52, 121-131 (2001).
34. Avila, A.M. et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J. Clin. Invest. 117, 659-671 (2007).
35. Chen, W., Mi, R., Haughey, N., Oz, M. & Hoke, A. Immortalization and characterization of a nociceptive dorsal root ganglion sensory neuronal line. J. Peripher. Nerv. Syst. 12, 121-130 (2007).
36. Vagin, A. & Teplyakov, A. An approach to multi-copy search in molecular replacement. Acta Crystallogr D Biol Crystallogr 56, 1622-1624 (2000).
37. Emsley, P. & Cowtan, K. Coot. Model-building tools for molecular graphics. Acta Crystallogr D Biol Crystallogr 60, 2126-2132 (2004).
38. Murshudov, G.N., Vagin, A.A. & Dodson, E.J. Refnement of macromolecular structures by the maximum-likelihood method. Acta Crystallogr D Biol Crystallogr 53, 240-255 (1997).