Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Nature Genetics

Volumn 43, Issue 11, 2011, Pages 1142-1146

  Lamandé, Shireen R ^a,b   Yuan, Yuan ^b   Gresshoff, Irma L ^a,b   Rowley, Lynn ^a   Belluoccio, Daniele ^a   Kaluarachchi, Kumara ^a   Little, Christopher B ^c   Botzenhart, Elke ^d   Zerres, Klaus ^d   Amor, David J ^a,b   Cole, William G ^e   Savarirayan, Ravi ^a,b   McIntyre, Peter ^b   Bateman, John F ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d RWTH AACHEN UNIVERSITY   (Germany)

^e UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; CATION CHANNEL; COMPLEMENTARY DNA; GSK 1016790A; MESSENGER RNA; MUTANT PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; UNCLASSIFIED DRUG; VANILLOID RECEPTOR 4; VANILLOID RECEPTOR AGONIST;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTHROPATHY; ARTICLE; ARTICULAR CARTILAGE; BONE DYSPLASIA; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CELL STRAIN HEK293; CLINICAL ARTICLE; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; FOOT DISEASE; GENE MUTATION; GENETIC DISORDER; GROWTH PLATE; HAND DISEASE; HAND RADIOGRAPHY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OSTEOARTHRITIS; PEDIGREE ANALYSIS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TIBIA;

CELL LINE; HUMANS; MUTATION; TRPV CATION CHANNELS;

EID: 80054985573     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.945     Document Type: Article

References (33)

1. Amor, D.J. et al. Familial digital arthropathy-brachydactyly. Am. J. Med. Genet. 108, 235-240 (2002). (Pubitemid 34202859)
2. Camacho, N. et al. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am. J. Med. Genet. A. 152A, 1169-1177 (2010).
3. Rock, M.J. et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat. Genet. 40, 999-1003 (2008).
4. 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).
5. Deng, H.X. et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat. Genet. 42, 165-169 (2009).
6. Landoure, G. et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat. Genet. 42, 170-174 (2009).
7. Nishimura, G. et al. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am. J. Med. Genet. A. 152A, 1443-1449 (2010).
8. Auer-Grumbach, M. et al. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat. Genet. 42, 160-164 (2009).
9. Klein, C.J. et al. TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology 76, 887-894 (2011).
10. Chen, D.H. et al. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology 75, 1968-1975 (2010).
11. Zimon, M. et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 133, 1798-1809 (2010).
12. Cameron, T.L., Belluoccio, D., Farlie, P.G., Brachvogel, B. & Bateman, J.F. Global comparative transcriptome analysis of cartilage formation in vivo. BMC Dev. Biol. 9-20 (2009).
13. Hellwig, N., Albrecht, N., Harteneck, C., Schultz, G. & Schaefer, M. Homo-and heteromeric assembly of TRPV channel subunits. J. Cell Sci. 118, 917-928 (2005). (Pubitemid 40484883)
14. Li, J., Mahajan, A. & Tsai, M.D. Ankyrin repeat: a unique motif mediating protein-protein interactions. Biochemistry 45, 15168-15178 (2006). (Pubitemid 46032443)
15. Strotmann, R., Harteneck, C., Nunnenmacher, K., Schultz, G. & Plant, T.D. OTRPC4, a nonselective cation channel that confers sensitivity to extracellular osmolarity. Nat. Cell Biol. 2, 695-702 (2000).
16. Watanabe, H. et al. Heat-evoked activation of TRPV4 channels in a HEK293 cell expression system and in native mouse aorta endothelial cells. J. Biol. Chem. 277, 47044-47051 (2002). (Pubitemid 36159212)
17. Gao, X., Wu, L. & O'Neil, R.G. Temperature-modulated diversity of TRPV4 channel gating: activation by physical stresses and phorbol ester derivatives through protein kinase C-dependent and-independent pathways. J. Biol. Chem. 278, 27129-27137 (2003). (Pubitemid 36876868)
18. Watanabe, H. et al. Activation of TRPV4 channels (hVRL-2/mTRP12) by phorbol derivatives. J. Biol. Chem. 277, 13569-13577 (2002). (Pubitemid 34967954)
19. Thorneloe, K.S. et al. N-((1S)-1-{[4-((2S)-2-{[(2,4-dichlorophenyl) sulfonyl]amino}-3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl) -1-benzothiophene-2-carboxamide (GSK1016790A), a novel and potent transient receptor potential vanilloid 4 channel agonist induces urinary bladder contraction and hyperactivity: Part I. J. Pharmacol. Exp. Ther. 326, 432-442 (2008).
20. 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 trafficking. J. Biol. Chem. 281, 1580-1586 (2006).
21. Dai, J. et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J. Med. Genet. 47, 704-709 (2010).
22. Andreucci, E. et al. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted by clinical, radiographic, and molecular studies in 21 new families. Orphanet J. Rare Dis. 6, 37 (2011).
23. Loukin, S., Su, Z. & Kung, C. Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations. PLoS ONE 6, e19533 (2011).
24. Clark, A.L., Votta, B.J., Kumar, S., Liedtke, W. & Guilak, F. Chondroprotective role of the osmotically sensitive ion channel transient receptor potential vanilloid 4: age-and sex-dependent progression of osteoarthritis in Trpv4-deficient mice. Arthritis Rheum. 62, 2973-2983 (2010).
25. Phan, M.N. et al. Functional characterization of TRPV4 as an osmotically sensitive ion channel in porcine articular chondrocytes. Arthritis Rheum. 60, 3028-3037 (2009).
26. Little, C.B. et al. Blocking aggrecanase cleavage in the aggrecan interglobular domain abrogates cartilage erosion and promotes cartilage repair. J. Clin. Invest. 117, 1627-1636 (2007). (Pubitemid 46871347)
27. Glasson, S.S., Blanchet, T.J. & Morris, E.A. The surgical destabilization of the medial meniscus (DMM) model of osteoarthritis in the 129/SvEv mouse. Osteoarthritis Cartilage 15, 1061-1069 (2007). (Pubitemid 47387036)
28. Fecto, F. et al. Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies. J. Biol. Chem. 286, 17281-17291 (2011).
29. Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460-465 (1984). (Pubitemid 14173577)
30. Little, C.B. et al. ADAMTS-1-knockout mice do not exhibit abnormalities in aggrecan turnover in vitro or in vivo. Arthritis Rheum. 52, 1461-1472 (2005). (Pubitemid 40663938)
31. Campos-Xavier, A.B. et al. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am. J. Hum. Genet. 84, 760-770 (2009).
32. Zreiqat, H. et al. S100A8 and S100A9 in experimental osteoarthritis. Arthritis Res. Ther. 12, R16 (2010).
33. Vandesompele, J. et al. Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol. 3, RESEARCH0034 (2002).