Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss

American Journal of Pathology

Volumn 171, Issue 2, 2007, Pages 608-616

  Guipponi, Michel ^a,e   Tan, Justin ^b,c   Cannon, Ping Z F ^a   Donley, Lauren ^b   Crewther, Pauline ^a   Clarke, Maria ^c   Wu, Qingyu ^d,f   Shepherd, Robert K ^b,c   Scott, Hamish S ^a  

^a WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^b BIONIC EAR INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d BAYER AG   (Germany)

^e GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^f LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ACTIVATED POTASSIUM CHANNEL; HEPSIN; MEMBRANE PROTEIN; MYELIN BASIC PROTEIN; SERINE PROTEINASE; THYROID HORMONE; THYROXINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; COCHLEA; COCHLEA DUCT; COCHLEAR NERVE; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EVOKED BRAIN STEM AUDITORY RESPONSE; HAIR CELL; HEARING LOSS; HORMONE BLOOD LEVEL; HYPOTHYROIDISM; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DEGRADATION; PROTEIN EXPRESSION; WESTERN BLOTTING;

EID: 34548321253     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.2353/ajpath.2007.070068     Document Type: Article

References (39)

1. Morton NE: Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991, 630:16-31
2. Seidman MD, Ahmad N, Bai U: Molecular mechanisms of age-related hearing loss. Ageing Res Rev 2002, 1:331-343
3. Gratton MA, Vazquez AE: Age-related hearing loss: current research. Curr Opin Otolaryngol Head Neck Surg 2003, 11:367-371
4. Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, Guipponi M, Wang J, Kawasaki K, Asakawa S, Minoshima S, Younus F, Mehdi SQ, Radhakrishna U, Papasavvas MP, Gehrig C, Rossier C, Korostishevsky M, Gal A, Shimizu N, Bonne-Tamir B, Antonarakis SE: Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet 2001, 27:59-63
5. Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M: Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Hum Mutat 2001, 18:101-108
6. Ben-Yosef T, Wattenhofer M, Riazuddin S, Ahmed ZM, Scott HS, Kudoh J, Shibuya K, Antonarakis SE, Bonne-Tamir B, Radhakrishna U, Naz S, Ahmed Z, Riazuddin S, Pandya A, Nance WE, Wilcox ER, Friedman TB, Morell RJ: Novel mutations of TMPRSS3 in four DFNB8/ B10 families segregating congenital autosomal recessive deafness. J Med Genet 2001, 38:396-400
7. Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE: Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med 2002, 80:124-131
8. Wattenhofer M, Sahin-Calapoglu N, Andreasen D, Kalay E, Caylan R, Braillard B, Fowler-Jaeger N, Reymond A, Rossier BC, Karaguzel A, Antonarakis SE: A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. Hum Genet 2005, 117:528-535
9. Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R: Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK: implications for genetic testing. Clin Genet 2005, 68:506-512
10. Wu Q: Type II transmembrane serine proteases. Curr Top Dev Biol 2003, 54:167-206
11. Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 1997, 16:188-190
12. Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C: The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 1997, 16:191-193
13. Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB: Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3. Science 1998, 280:1447-1451
14. Walsh T, Walsh V, Vreugde S, Hertzano R, Shahin H, Haika S, Lee MK, Kanaan M, King MC, Avraham KB: From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proc Natl Acad Sci USA 2002, 99:7518-7523
15. Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER: Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet 2003, 72:1315-1322
16. Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P: MY06, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet 2001, 69:635-640
17. Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nurnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A: Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). Am J Hum Genet 2004, 74:770-776
18. Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN: Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000, 67:1121-1128
19. Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P: Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss. Am J Hum Genet 2003, 72:1571-1577
20. Wu Q, Yu D, Post J, Halks-Miller M, Sadler JE, Morser J: Generation and characterization of mice deficient in hepsin, a hepatic transmembrane serine protease. J Clin Invest 1998, 101:321-326
21. Shepherd RK, Coco A, Epp SB, Crook JM: Chronic depolarization enhances the trophic effects of brain-derived neurotrophic factor in rescuing auditory neurons following a sensorineural hearing loss. J Comp Neurol 2005, 486:145-158
22. Ng L, Goodyear RJ, Woods CA, Schneider MJ, Diamond E, Richardson GP, Kelley MW, Germain DL, Galton VA, Forrest D: Hearing loss and retarded cochlear development in mice lacking type 2 iodothyronine deiodinase. Proc Natl Acad Sci USA 2004, 101:3474-3479
23. Knipper M, Zinn C, Maier H, Praetorius M, Rohbock K, Kopschall I, Zimmermann U: Thyroid hormone deficiency before the onset of hearing causes irreversible damage to peripheral and central auditory systems. J Neurophysiol 2000, 83:3101-3112
24. Rusch A, Erway LC, Oliver D, Vennstrom B, Forrest D: Thyroid hormone receptor β-dependent expression of a potassium conductance in inner hair cells at the onset of hearing. Proc Natl Acad Sci USA 1998, 95:15758-15762
25. 2+-activated BK channel mRNA and its splice variants in the rat cochlea. J Comp Neurol 2003, 455:198-209
26. + channels to auditory neurotransmission in the guinea pig cochlea. J Neurophysiol 2003, 90:320-332
27. 2+-activated potassium (BK) α-subunit but not the BK/31subunit leads to progressive hearing loss. Proc Natl Acad Sci USA 2004, 101:12922-12927
28. + channels in rodent inner hair cells. J Neurosci 2007, 21:3174-3186
29. Richardson GP, Russell IJ, Duance VC, Bailey AJ: Polypeptide composition of the mammalian tectorial membrane. Hear Res 1987, 25:45-60
30. Willem M, Garratt AN, Novak B, Citron M, Kaufmann S, Rittger A, DeStrooper B, Saftig P, Birchmeier C, Haass C: Control of peripheral nerve myelination by the β-secretase BACE1. Science 2006, 314:664-666
31. Uziel A, Gabrion J, Ohresser M, Legrand C: Effects of hypothyroidism on the structural development of the organ of Corti in the rat. Acta Otolaryngol 1981, 92:469-480
32. Uziel A: Periods of sensitivity to thyroid hormone during the development of the organ of Corti. Acta Otolaryngol (Suppl) 1986, 429:23-27
33. O'Malley Jr BW, Li D, Turner DS: Hearing loss and cochlear abnormalities in the congenital hypothyroid (hyt/hyt) mouse. Hear Res 1995, 88:181-189
34. Li D, Henley CM, O'Malley BW Jr: Distortion product otoacoustic emissions and outer hair cell defects in the hyt/hyt mutant mouse. Hear Res 1999, 138:65-72
35. Christ S, Biebel UW, Hoidis S, Friedrichsen S, Bauer K, Smolders JW: Hearing loss in athyroid pax8 knockout mice and effects of thyroxine substitution. Audiol Neurootol 2004, 9:88-106
36. Forrest D, Erway LC, Ng L, Altschuler R, Curran T: Thyroid hormone receptor beta is essential for development of auditory function. Nat Genet 1996, 13:354-357
37. Rusch A, Ng L, Goodyear R, Oliver D, Lisoukov I, Vennstrom B, Richardson G, Kelley MW, Forrest D: Retardation of cochlear maturation and impaired hair cell function caused by deletion of all known thyroid hormone receptors. J Neurosci 2001, 21:9792-9800
38. Knipper M, Bandtlow C, Gestwa L, Kopschall I, Rohbock K, Wiechers B, Zenner HP, Zimmermann U: Thyroid hormone affects Schwann cell and oligodendrocyte gene expression at the glial transition zone of the VIIIth nerve prior to cochlea function. Development 1998, 125:3709-3718
39. Friedrichs B, Tepel C, Reinheckel T, Deussing J, von Figura K, Herzog V, Peters C, Saftig P, Brix K: Thyroid functions of mouse cathepsins B, K, and L. J Clin Invest 2003, 111:1733-1745