Genetic inactivation of Trpml3 does not lead to hearing and vestibular impairment in mice

PLoS ONE

Volumn 5, Issue 12, 2010, Pages

  Jörs, Simone ^a   Grimm, Christian ^a   Becker, Lars ^a   Heller, Stefan ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BALANCE IMPAIRMENT; CIRCLING BEHAVIOR; CONTROLLED STUDY; EMBRYO; EXON; FEMALE; GENE; GENE INACTIVATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAIR CELL; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; HUMAN CELL; MALE; MOUSE; NONHUMAN; TRPML3 GENE; VESTIBULAR DISORDER; ANIMAL; BIOLOGICAL MODEL; BRAIN STEM; CELL LINE; CHEMISTRY; CYTOSOL; GENE DELETION; GENETICS; HEARING; METABOLISM; MOUSE MUTANT; MUTATION; PHENOTYPE; PHYSIOLOGY;

MURINAE; MUS;

CATION; HYDROGEN; ISOPROTEIN; MCOLN3 PROTEIN, MOUSE; SODIUM; TRANSIENT RECEPTOR POTENTIAL CHANNEL M;

ANIMALS; BRAIN STEM; CATIONS; CELL LINE; CYTOSOL; EXONS; GENE DELETION; GENOTYPE; HEARING; HEARING LOSS; HUMANS; HYDROGEN; MICE; MICE, KNOCKOUT; MODELS, GENETIC; MUTATION; PHENOTYPE; PROTEIN ISOFORMS; SODIUM; TRPM CATION CHANNELS; VESTIBULAR DISEASES;

EID: 78650770894     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0014317     Document Type: Article

References (29)

1. Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, et al. (2000) Identification of the gene causing mucolipidosis type IV. Nat Genet 26: 118-123.
2. Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, et al. (2000) Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet 9: 2471-2478.
3. Bach G (2001) Minireview Mucolipidosis Type IV. Mol Genet Metab 73: 197-203.
4. Di Palma F, Belyantseva IA, Kim HJ, Vogt TF, Kachar B, et al. (2002) Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice. Proc Natl Acad Sci U S A 99: 14994-14999.
5. Cable J, Steel KP (1998) Combined cochleo-saccular and neuroepithelial abnormalities in the Varitint-waddler-J (VaJ) mouse. Hear Res 123: 125-136.
6. Kim HJ, Jackson T, Noben-Trauth K (2003) Genetic analyses of mouse deafness mutation Varitint-waddler (Va) and Jerker (Espnje). J Assoc Res Otolaryngol 4: 83-90.
7. Grimm C, Cuajungco MP, van Aken AF, Schnee M, Jörs S, et al. (2007) A helixbreaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse. Proc Natl Acad Sci U S A 104: 19583-19588.
8. Kim HJ, Li Q, Tjon-Kon-Sang S, So I, Kiselyov K, et al. (2007) Gain-offunction mutation in TRPML3 causes the mouse Varitint-Waddler phenotype. J Biol Chem 282: 36138-36142.
9. Nagata K, Zheng L, Madathany T, Castiglioni AJ, Bartles JR, et al. (2008) The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration. Proc Natl Acad Sci U S A 105: 353-358.
10. Xu H, Delling M, Li L, Dong X, Clapham DE (2007) Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice. Proc Natl Acad Sci U S A 104: 18321-18326.
11. Grimm C, Jörs S, Heller S (2009) Life and death of sensory hair cells expressing constitutively active TRPML3. J Biol Chem 284: 13823-13831.
12. Kim HJ, Li Q, Tjon-Kon-Sang S, So I, Kiselyov K, et al. (2008) A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype. EMBO J 27: 1197-1205.
13. Grimm C, Jörs S, Saldana A, Obukov AG, Pan B, et al. (2010) Small molecule activators of TRPML3. Chemistry & Biology 17: 135-148.
14. Kim HJ, Soyombo AA, Tjon-Kon-Sang S, So I, Muallem S (2009) The Ca2+ channel TRPML3 regulates membrane trafficking and autophagy. Traffic 10: 1157-1167.
15. Cheng X, Shen D, Samie M, Xu H (2010) Mucolipins: Intracellular TRPML1-3 channels. FEBS Letters 584: 2013-2021.
16. Venkatachalam K, Hofmann T, Montell C (2006) Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1. J Biol Chem 281: 17517-17527.
17. van Aken AF, Atiba-Davies M, Marcotti W, Goodyear RJ, Bryant JE, et al. (2008) TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice. J Physiol 586: 5403-5418.
18. Kwan KY, Allchorne AJ, Vollrath MA, Christensen AP, Zhang D, et al. (2006) TRPA1 contributes to cold, mechanical and chemical nociception but is not essential for hair-cell transduction. Neuron 59: 277-289.
19. Bautista DM, Jordt SE, Nikai T, Tsuruda PR, Read AJ, et al. (2006) TRPA1 mediates the inflammatory action of environmental irritants and proalgesic agents. Cell 124: 1269-1282.
20. Moqrich A, Wook Hwang S, Earley TJ, Petrus MJ, Murray AN, et al. (2005) Impaired thermosensation in mice lacking TRPV3, a heat and camphor sensor in the skin. Science 307: 1468-1472.
21. Tang SHE, Silva FJ, Tsark WMK, Mann JR (2002) A Cre/loxP-deleter transgenic line in mouse strain 129S1/SvlmJ. Genesis 32: 199-202.
22. Cuajungco MP, Grimm C, Heller S (2007) TRP channels as candidates for hearing and balance abnormalities in vertebrates. Biochimica et Biophysica Acta 1772: 1022-1027.
23. Jero J, Coling DE, Lalwani AK (2001) The use of Preyer's reflex in evaluation of hearing in mice. Acta Oto-Laryngologica 121: 585-589.
24. Chow LML, Tian Y, Weber T, Corbett M, Zuo J, et al. (2006) Inducible Cre recombinase activity in mouse cerebellar granule cell precursors and inner ear hair cells. Dev Dyn 235: 2991-2998.
25. Tabuchi K, Suzuki M, Mizuno A, Hara A (2005) Hearing impairment in TRPV4 knockout mice. Neurosci Lett 382: 304-308.
26. Liberman MC, Gao WY (1995) Chronic chochlear de-efferentation and susceptibility to permanent acoustic injury. Hearing Research 90: 158-168.
27. Liedtke W, Choe Y, Martí-Renom MA, Bell AM, Denis CS, et al. (2000) Vanilloid receptor-related osmotically activated channel (VR-OAC), a candidate vertebrate osmoreceptor. Cell 103: 525-535.
28. Jones BJ, Roberts DJ (1968) The quantitative measurement of motor incoordination in naive mice using an accelerating rotarod. J Pharm Pharmac 20: 302-304.
29. Zheng QY, Johnson KR, Erway LC (1999) Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses. Hear Res 130: 94-107.