The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

Histochemistry and Cell Biology

Volumn 119, Issue 3, 2003, Pages 247-256

  Cryns, Kim ^a   Thys, Sofie ^a   Van Laer, Lut ^a   Oka, Yoshitomo ^b   Pfister, Markus ^c   Van Nassauw, Luc ^a   Smith, Richard J H ^d   Timmermans, Jean Pierre ^a   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY OF IOWA HEALTH CARE   (United States)

Author keywords

Canalicular reticulum; Immunohistochemistry; In situ hybridization; Inner ear; WFS1

Indexed keywords

GENE PRODUCT; UNCLASSIFIED DRUG; WOLFRAMIN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL FUNCTION; CELL TYPE; COCHLEA; CONTROLLED STUDY; DEVELOPMENTAL STAGE; ENDOPLASMIC RETICULUM; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; HOMEOSTASIS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INNER EAR; ION CURRENT; MALE; MOUSE; NONHUMAN; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; TRANSCYTOSIS; WOLFRAM SYNDROME;

ANIMALIA;

EID: 0037361670     PISSN: 09486143     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00418-003-0495-6     Document Type: Article

References (34)

1. Baron DA, Briggman JV, Spicer SS (1984) Tubulocisternal endoplasmic reticulum in human eccrine sweat glands. Lab Invest 51:233-243
2. Bespalova IN, Camp G van, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HPM, Kurnool P, Sivakumaran TA, Cremers CWRJ, Leal SM, Burmeister M, Lesperance MM (2001) Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 10:2501-2508
3. Chung JW, Schacht J (2002) ATP and nitric oxide modulate intracellular calcium in isolated pillar cells of the guinea pig cochlea. J Assoc Res Otolaryngol 2:399-407
4. Cremers CW, Wijdeveld PG, Pinckers AJ (1977) Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. Acta Paediatr Scand Suppl 1-16
5. Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Koln KA, Toth T, Kupka S, Blin N, Nurnberg P, Thiele H, Heyning PH van de, Reardon W, Stephens D, Cremers CW, Smith RJ, Camp G van (2002) Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 110:389-394
6. Cunningham CD, Weber PC, Spicer SS, Schulte BA (2000) Canalicular reticulum in vestibular hair cells. Hear Res 143:69-83
7. Dulon D, Blanchet C, Laffon E (1994) Photo-released intracellular Ca2+ evokes reversible mechanical responses in supporting cells of the guinea-pig organ of Corti. Biochem Biophys Res Commun 201:1263-1269
8. Forge A (1982) A tubulo-cisternal endoplasmic reticulum system in the potassium transporting marginal cells of the stria vascularis and effects of the ototoxic diuretic ethacrynic acid. Cell Tissue Res 226:375-387
9. Harada Y, Sakai T, Tagashira N, Suzuki M (1987) Three-dimensional observation of the cochlea. Intracellular structure of the hair cell and the supporting cell. Acta Otolaryngol 103:458-463
10. Higashi K (1991) Otologic findings of DIDMOAD syndrome. Am J Otol 12:57-60
11. Ikeda K, Suzuki M, Furukawa M, Takasaka T (1995) Calcium mobilization and entry induced by extracellular ATP in the non-sensory epithelial cell of the cochlear lateral wall. Cell Calcium 18:89-99
12. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20:143-148
13. Kennedy HJ, Meech RW (2002) Fast Ca2+ signals at mouse inner hair cell synapse: a role for Ca2+-induced Ca2+ release. J Physiol 539:15-23
14. Lopez-Escamez JA, Schacht J (1995) Mechanically induced calcium increases in isolated vestibular hair cells of the guinea pig. Acta Otolaryngol 115:759-764
15. Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 278:1315-1318
16. Mammano F, Frolenkov GI, Lagostena L, Belyantseva IA, Kurc M, Dodane V, Colavita A, Kachar B (1999) ATP-Induced Ca(2+) release in cochlear outer hair cells: localization of an inositol triphosphate-gated Ca(2+) store to the base of the sensory hair bundle. J Neurosci 19:6918-6929
17. Michalak M, Milner RE, Burns K, Opas M (1992) Calreticulin. Biochem J 285:681-692
18. Mollgard K, Rostgaard J (1978) Morphological aspects of some sodium transporting epithelia suggesting a transcellular pathway via elements of endoplasmic reticulum. J Membr Biol 40(Spec No):71-89
19. Mollgard K, Rostgaard J (1981) The transcellular compartment of tubulocisternal endoplasmic reticulum, a common feature of transporting epithelial cells. In: Ussing HH, Bindslev N, Sten-Knudsen O (eds) Water transport across epithelia. Munksgaard, Copenhagen, pp 85-98
20. Nash PD, Opas M, Michalak M (1994) Calreticulin: not just another calcium-binding protein. Mol Cell Biochem 135:71-78
21. Qvortrup K, Rostgaard J (1990) Three-dimensional organization of a transcellular tubulocisternal endoplasmic reticulum in epithelial cells of Reissner's membrane in the guinea-pig. Cell Tissue Res 261:287-299
22. Rome C, Luo D, Dulon D (1999) Muscarinic receptor-mediated calcium signaling in spiral ganglion neurons of the mammalian cochlea. Brain Res 846:196-203
23. Rostgaard J, Moller O (1980) Localization of Na+, K+-ATPase to the inside of the basolateral cell membranes of epithelial cells of proximal and distal tubules in rabbit kidney. Cell Tissue Res 212:17-28
24. Spicer SS, Schulte BA (1997) Golgi-canalicular reticulum system in ion transporting fibrocytes and outer sulcus epithelium of gerbil cochlea. Anat Rec 249:117-127
25. Spicer SS, Thomopoulos GN, Schulte BA (1998) Cytologic evidence for mechanisms of K+ transport and genesis of Hensen bodies and subsurface cisternae in outer hair cells. Anat Rec 251:97-113
26. Spicer SS, Thomopoulos GN, Schulte BA (1999) Novel membranous structures in apical and basal compartments of inner hair cells. J Comp Neurol 409:424-437
27. Spicer SS, Thomopoulos GN, Schulte BA (2000) Structural evidence for ion transport and tectorial membrane maintenance in the gerbil limbus. Hear Res 143:147-161
28. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet 7:2021-2028
29. Sugasawa M, Erostegui C, Blanchet C, Dulon D (1996a) ATP activates a cation conductance and Ca(2+)-dependent Cl-conductance in Hensen cells of guinea pig cochlea. Am J Physiol 271:C1817-C1827
30. Sugasawa M, Erostegui C, Blanchet C, Dulon D (1996b) ATP activates non-selective cation channels and calcium release in inner hair cells of the guinea pig cochlea. J Physiol 491:707-718
31. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, Shinoda K, Oka Y (2001) WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 10:477-484
32. Van Camp G, Smith RJH (2002) Hereditary hearing loss homepage. http://dnalab-www.uia.ac.be/dnalab/hhh. Cited October 2002
33. Wolfram DJ, Wagener HP (1938) Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 13:715-718
34. Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cator T, Griffin A, Fernandez B, Lee MK, King MC (2001) Non-syndromic progressive heating loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 10:2509-2514