Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Nature Genetics

Volumn 21, Issue 1, 1999, Pages 84-90

  Karet, Fiona E ^a,b   Finberg, Karin E ^a   Nelson, Raoul D ^c   Nayir, Ahmet ^d   Mocan, Hilal ^e   Sanjad, Sami A ^f   Rodriguez Soriano, Juan ^g   Santos, Fernando ^h   Cremers, Cor W R J ⁱ   Di Pietro, Antonio ^j   Hoffbrand, Barry I ^k   Winiarski, Jacek ^l   Bakkaloglu, Aysin ^m   Ozen, Seza ^m   Dusunsel, Ruhan ⁿ   Goodyer, Paul ^o   Hulton, Sally A ^p   Wu, Doris K ^q   Skvorak, Anne B ^r   Morton, Cynthia C ^r   Cunningham, Michael J ^s   Jha, Vivekanand ^t   Lifton, Richard P ^a,b   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d ISTANBUL UNIVERSITY   (Turkey)

^e KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^f KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^g HOSPITAL DE CRUCES   (Spain)

^h UNIVERSITY OF OVIEDO   (Spain)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j Servizio di Nefrologia Pediatrica   (Italy)

^k WHITTINGTON HOSPITAL   (United Kingdom)

^l KAROLINSKA INSTITUTE   (Sweden)

^m HACETTEPE UNIVERSITY   (Turkey)

ⁿ ERCIYES UNIVERSITY   (Turkey)

^o MONTREAL CHILDREN S HOSPITAL   (Canada)

^p BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^q NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^r BRIGHAM AND WOMEN S HOSPITAL   (United States)

^s HARVARD MEDICAL SCHOOL   (United States)

^t POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 2; CLINICAL ARTICLE; COCHLEA; ENDOLYMPHATIC SAC; FEMALE; GENE MUTATION; HUMAN; INFANT; KIDNEY TUBULE ACIDOSIS; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTON TRANSPORT; TISSUE DISTRIBUTION;

ACIDOSIS, RENAL TUBULAR; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; COCHLEA; FEMALE; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTON-TRANSLOCATING ATPASES;

EID: 0032943534     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/5022     Document Type: Article

References (41)

1. Bastani, B. & Gluck, S.L. New insights into the pathogenesis of distal renal tubular acidosis. Miner. Electrolyte Metab. 22, 396-409 (1996).
2. Batlle, D.C., Sehy, J.T., Roseman, M.K., Arruda, J.A. & Kurtzman, N.A. Clinical and pathophysiologic spectrum of acquired distal renal tubular acidosis. Kidney Int. 20, 389-396 (1981).
3. Lightwood, R. Communication no. 1. Arch. Dis. Child. 10, 205 (1935).
4. Butler, A.M., Wilson, J.L. & Farber, S. Dehydration and acidosis with calcification at renal tubules. J. Pediatr. 8, 489 (1936).
5. Royer, P. & Broyer, M. L'acidose renale au cours des tubulopathies congenitales. in Proceedings of Actualites Nephrologiques de l'Hopital Necker (Flammarion, Paris, 1967).
6. Nance, W.E. & Sweeney, A. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. Birth Defects Orig. Artic Ser. 7, 70-72 (1971).
7. Walker, W.G. Renal tubular acidosis and deafness. Birth Defects Orig. Artic Ser. 7, 126 (1971).
8. Donckerwolcke, R.A., van Biervliet, J.P., Koorevaar, G., Kuijten, R.H. & van Stekelenburg, G.J. The syndrome of renal tubular acidosis with nerve deafness. Acta Paediatr. Scand. 65, 100-104 (1976).
9. Brown, M.T., Cunningham, M.J., Ingelfinger, J.R. & Becker, A.N. Progressive sensorineural hearing loss in association with distal renal tubular acidosis. Arch. Otolaryngol. Head Neck Surg. 119, 455-460 (1993).
10. Zakzouk, S.M., Sobki, S.H., Mansour, F. & Al Anazy, F.H. Hearing impairment in association with distal renal tubular acidosis among Saudi children. J. Laryngol. Otol. 109, 930-934 (1995).
11. Misrahy, G.A., Hildreth, K.M., Clark, L.C. & Shinabarger, E.W. Measurement of the pH of endolymph in the cochlea of guinea pigs. Am. J. Physiol. 194, 393-395 (1958).
12. Tasaki, I. & Spyropoulos, C.S. Stria vascularis as source of endocochlear potential. J. Neurophysiol. 22, 149-155 (1959).
13. Sellick, P.M. & Johnstone, B.M. Production and role of inner ear fluid. Prog. Neurobiol. 5, 337-362 (1975).
14. Sterkers, O., Saumon, G., Huy, P.T.B., Ferrary, E. & Amiel, C. Electrochemical heterogeneity of the cochlear endolymph: effect of acetazolamide. Am. J. Physiol. 246, F47-F53 (1984).
15. Györy, A.K. & Edwards, K.D.G. Renal tubular acidosis. A family with an autosomal dominant genetic defect in renal hydrogen ion transport, with proximal tubular and collecting duct dysfunction and increased metabolism of citrate and ammonia. Am. J. Med. 45, 43-62 (1968).
16. Bruce, L.J. et al Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1) gene. J. Clin. Invest. 100, 1693-1707 (1997).
17. 3 exchanger. J. Biol. Chem. 273, 6380-6388 (1998).
18. Karet, F.E. et al. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc. Natl Acad. Sci. USA 95, 5337-6342 (1998).
19. Lander, E.S. & Botstein, D. Homozygosity mapping - a way to map human recessive traits with the DNA of inbred children. Science 236, 1567-1570 (1987).
20. Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. & Lander, E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58, 1347-1363 (1996).
21. +-ATPase 56-kilodalton subunit in renal intercalated cells. Proc. Natl Acad. Sci. USA 89, 3541-3545 (1992).
22. Stevens, T.H. & Forgac, M. Structure, function and regulation of the vacuolar (H+)-ATPase. Annu. Rev. Cell Dev. Biol. 13, 779-808 (1997).
23. Boyer, P.D. The ATP synthase - a splendid molecular machine. Annu. Rev. Biochem. 66, 717-749 (1997).
24. + pump strongly resembles the ATP-synthetase of Archaebacteria. Proc. Natl Acad. Sci. USA 86, 6067-6071 (1989).
25. Mitchell, P. Coupling of phosphorylation to electron and hydrogen transfer by a chemi-osmotic type of mechanism. Nature 191, 144-148 (1961).
26. +-ATPase. J. Biol. Chem. 265, 17428-17431 (1990)
27. +-ATPase in bovine tissues. J. Biol. Chem. 267, 3696-3706 (1992).
28. van Hille, B. et al. Heterogeneity of vacuolar ATPase: differential expression of two human subunit B isoforms. Biochem J. 303, 191-198 (1994).
29. Abrahams, J.P., Leslie, A.G.W., Lutter, R. & Walker, J.E. Structure at 2.8 angstrom resolution of F1-ATPase from bovine heart mitochondria. Nature 370, 621-628 (1994).
30. Batlle, D. & Flores, G. Underlying defects in distal renal tubular acidosis: new understandings. Am. J. Kidney Dis. 6, 896-915 (1996).
31. - exchanger in guinea pig inner ear Hearing Res. 114, 21-34 (1997).
32. Canlon, B. & Brundin, L. Mechanically induced length changes of isolated outer hair cells are metabolically dependent. Hearing Res. 53, 7-16 (1991).
33. Cremers, C.W.R.J., Monnens, L.H. & Marres, E.H.M.A. Renal tubular acidosis and sensorineural deafness: an autosomal recessive syndrome. Arch. Otolaryngol. 106, 287-289 (1980).
34. Bell, G., Karam, J. & Rutter, W. Polymorphic DNA region adjacent to the 5'-end of the human insulin gene. Proc. Natl Acad. Sci. USA 78, 5759-5763 (1981).
35. Craig, H.D. et al. Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum. Mol. Genet. 7, 1851-1858 (1998).
36. Liu, Y-G. & Whittier, R.F. Thermal asymmetric interlaced PCR - automatable amplification and sequencing of insert end fragments from P1 and YAC clones for chromosome walking. Genomics 25, 674-681 (1995).
37. Shimkets, R.A. et al. Liddle's syndrome: heritable human hypertension caused by mutations in the b-subunit of the epithelial sodium channel. Cell 79, 407-414 (1994).
38. Rost, B. & Sander, C. Prediction of protein secondary structure at better than 70% accuracy. J. Mol. Biol. 232, 584-599 (1993).
39. Robertson, N.G., Khetarpal, U., Gutierrez-Espeleta, G.A., Bieber, F.R. & Morton, C.C. Isolation of novel and known genes from a human fetal cochlear library using subtractive hybridization and differential screening. Genomics 23, 42-50 (1994).
40. Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by guanidinium isothiocyanate phenol chloroform extraction. Anal. Biochem. 162, 156-159 (1987).
41. Hasson, T. et al. Unconventional myosins in inner-ear sensory epithelia. J. Cell Biol. 137, 1287-1307 (1997).