Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1169-1177

  Camacho, Natalia ^a   Krakow, Deborah ^a,b   Johnykutty, Sharlin ^c   Katzman, Philip J ^c   Pepkowitz, Samuel ^d   Vriens, Joris ^e   Nilius, Bernd ^e   Boyce, Brendan F ^c   Cohn, Daniel H ^b,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^d CEDARS SINAI MEDICAL CENTER   (United States)

^e LABORATORY OF MOLECULAR AND CELLULAR SIGNALING   (Belgium)

Author keywords

Calcium channel; Chondrocyte; Metatropic dysplasia; Skeleton; TRPV4

Indexed keywords

CALCIUM CHANNEL; VANILLOID RECEPTOR 4;

ARTICLE; BONE DYSPLASIA; BONE MINERALIZATION; CARTILAGE; CARTILAGE CELL; CELL DIFFERENTIATION; CLINICAL ARTICLE; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; DOMINANT INHERITANCE; ELECTROPHYSIOLOGY; ENCHONDRAL OSSIFICATION; GENE LOCUS; GROWTH PLATE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; KYPHOSCOLIOSIS; LETHALITY; LIMB MALFORMATION; METATROPIC DYSPLASIA; POINT MUTATION; PRIORITY JOURNAL; REGULATOR GENE; VANILLOID RECEPTOR 4 GENE;

BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; CARTILAGE; CELL LINE; GENES, DOMINANT; HUMANS; ION CHANNEL GATING; MUTATION; TRACHEA; TRPV CATION CHANNELS;

EID: 77951717570     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33392     Document Type: Article

References (26)

1. Akiyama H, Chaboissier MC, Martin JF, Schedl A, de Crombrugghe B. 2002. The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6. Genes Dev 16:2813-2828. (Pubitemid 35253149)
2. Akiyama H, Lyons JP, Mori-Akiyama Y, Yang X, Zhang R, Zhang Z, Deng JM, Taketo MM, Nakamura T, Behringer RR, McCrea PD, de Crombrugghe B. 2004. Interactions between Sox9 and beta-catenin control chondrocyte differentiation. Genes Dev 18:1072-1087. (Pubitemid 38620246)
3. Beck M, Roubicek M, Rogers JG, Naumoff P, Spranger J. 1983. Heterogeneity of metatropic dysplasia. Eur J Pediatr 140:231-237.
4. Bridgewater LC, Lefebvre V, de Crombrugghe B. 1998. Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer. J Biol Chem 273:14998-15006. (Pubitemid 28272793)
5. Chen X, Alessandri-Haber N, Levine JD. 2007. Marked attenuation of inflammatory mediator-induced C-fiber sensitization for mechanical and hypotonic stimuli in TRPV4-/- mice. Mol Pain 3:31.
6. Clark K, Middelbeek J, van Leeuwen FN. 2008. Interplay between TRP channels and the cytoskeleton in health and disease. Eur J Cell Biol 87:631-640.
7. Damann N, Voets T, Nilius B. 2008. TRPs in our senses. Curr Biol 18:R880-R889.
8. Geneviéve D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V. 2008. Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature. Am J Med Genet Part A 146A:992-996.
9. Ikeda T, Kamekura S, Mabuchi A, Kou I, Seki S, Takato T, Nakamura K, Kawaguchi H, Ikegawa S, Chung UI. 2004. The combination of SOX5, SOX6, and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilage. Arthritis Rheum 11:3561-3573. (Pubitemid 39488681)
10. Kannu P, Aftimos S, Mayne V, Donan L, Savarirayan R. 2007. Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Gene Part A 143A:2512-2522. (Pubitemid 350058163)
11. Karsenty G, Kronenberg HM, Settembre C. 2009. Genetic control of bone formation. Ann Rev Cell Dev Biol 25:629-648.
12. Kozlowski K, Maroteaux P, Spranger JW. 1967. La dysostose spondylo-metaphisaire. Presse Med 75:2769-2774.
13. Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. 2009. 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.
14. Leet AI, Sampath JS, Scott CI Jr, MacKenzie WG. 2006. Cervical spinal stenosis in metatropic dysplasia. J Pediatr Orthop 26:347-352. (Pubitemid 44357062)
15. Lefebvre V, Huang W, Harley VR, Goodfellow PN, de Crombrugghe B. 1997. SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. Mol Cell Biol 17:2336-2346. (Pubitemid 27133320)
16. Loukin SH, Su Z, Kung C. 2009. Hypotonic shocks activate rat TRPV4 in yeast in the absence of polyunsaturated fatty acids. FEBS Lett 583:754-758.
17. Maroteaux P, Spranger JW, Wiedemann H-R. 1966. Der metatropische Zwergwuchs (metatrophic dwarfism). Arch Kinderheilk 173:211-226.
18. Masuyama R, Vriens J, Voets T, Karashima Y, Owsianik G, Vennekens R, Lieben L, Torrekens S, Moermans K, Vanden Bosch A, Bouillon R, Nilius B, Carmeliet G. 2008. TRPV4-mediated calcium influx regulates terminal differentiation of osteoclasts. Cell Metab 8:257-265.
19. Mizoguchi F, Mizuno A, Hayata T, Nakashima K, Heller S, Ushida T, Sokabe M, Miyasaka N, Suzuki M, Ezura Y, Noda M. 2008. Transient receptor potential vanilloid 4 deficiency suppresses unloading-induced bone loss. J Cell Physiol 216:47-53. (Pubitemid 351813094)
20. Muramatsu S, Wakabayashi M, Ohno T, Amano K, Ooishi R, Sugahara T, Shiojiri S, Tashiro K, Suzuki Y, Nishimura R, Kuhara S, Sugano S, Yoneda T, Matsuda A. 2007. Functional gene screening system identified TRPV4 as a regulator of chondrogenic differentiation. J Biol Chem 282: 32158-32167. (Pubitemid 350106454)
21. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagain T, Rimoin DL, Nilius B, Cohn DH. 2008. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet 40:999-1003.
22. Saito T, Ikeda T, Nakamura K, Chung UI, Kawaguchi H. 2007. S100A1 and S100B, transcriptional targets of SOX trio, inhibit terminal differentiation of chondrocytes. EMBO Rep 8:504-509. (Pubitemid 46696522)
23. Vriens J, Owsianik G, Fisslthaler B, Suzuki M, Janssens A, Voets T, Morisseau C, Hammock BD, Fleming I, Busse R, Nilius B. 2005. Modulation of the Ca2 permeable cation channel TRPV4 by cytochrome P450 epoxygenases in vascular endothelium. Circ Res 97:908-915. (Pubitemid 41552676)
24. Vriens J, Owsianik G, Janssens A, Voets T, Nilius B. 2007. Determinants of 4 alpha-phorbol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4. J Biol Chem 282:12796-12803. (Pubitemid 47100616)
25. Xu H, Zhao H, Tian W, Yoshida K, Roullet JB, Cohen DM. 2003. Regulation of a transient receptor potential (TRP) channel by tyrosine phosphorylation. SRC family kinase-dependent tyrosine phosphorylation of TRPV4 on TYR-253 mediates its response to hypotonic stress. J Biol Chem 278:11520-11527. (Pubitemid 36792713)
26. Zhang P, Jimenez SA, Stokes DG. 2003. Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9. J Biol Chem 278:117-123. (Pubitemid 36043552)