A family of mammalian anion transporters and their involvement in human genetic diseases

Human Molecular Genetics

Volumn 8, Issue 10, 1999, Pages 1883-1891

  Everett, Lorraine A ^a   Green, Eric D ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANION; CARRIER PROTEIN;

AMINO ACID SEQUENCE; ANION TRANSPORT; CHLORIDE DIARRHEA; DYSPLASIA; GENE; GENETIC DISORDER; HUMAN; NUCLEOTIDE SEQUENCE; PENDRED SYNDROME; PRIORITY JOURNAL; REVIEW; SEQUENCE HOMOLOGY;

ANIMALS; ANION TRANSPORT PROTEINS; CARRIER PROTEINS; CHLORIDES; DIARRHEA; GENETIC DISEASES, INBORN; HUMANS; MEMBRANE TRANSPORT PROTEINS; MULTIGENE FAMILY; PHYLOGENY; SYNDROME;

EID: 0032837375     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.10.1883     Document Type: Review

References (101)

1. Green, E.D., Cox, D.R. and Myers. R.M. (1998) The human genome project and its impact on the study of human disease. In The Genetic Basis of Human Cancer. McGraw-Hill, New York, pp. 33-63.
2. Green, E.D. (2000) The human genome project and its impact on the study of human disease. In Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, in press.
3. Collins, F.S. (1995) Positional cloning moves from perditional to traditional. Nature Genet., 9, 347-350.
4. Ballabio, A. (1993) The rise and fall of positional cloning? Nature Genet., 3, 277-279.
5. Hastbacka, J., Superti-Furga, A., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. and Lander, E.S. (1996) Sulfate transport in chondrodysplasia. Ann. NY Acad. Sci., 785, 131-136.
6. Lamy, M. and Maroteaux, P. (1960) Le nanisme diastrophique. Presse Med., 68, 1977-1980.
7. Walker, B.A., Scott, C.I., Hall, J.G., Murdoch, J.L. and McKusick, V.A. (1972) Diastrophic dwarfism. Medicine (Baltimore), 51, 41-59.
8. Hastbacka, J., Kaitila, I., Sistonen, P. and de la Chapelle, A. (1990) Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. Proc. Natl Acad. Sci. USA, 87, 8056-8059.
9. Hastbacka, J., Sistonen, P., Kaitila, I., Weiffenbach, B., Kidd, K.K. and de la Chapelle, A. (1991) A linkage map spanning the locus for diastrophic dysplasia (DTD). Genomics, 11, 968-973.
10. Luria, S.E. and Delbrück, M. (1943) Mutations of bacteria from virus sensitivity to virus resistance. Genetics, 28, 491-511.
11. Hastbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A. and Lander, E. (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nature Genet., 2, 204-211.
12. Hastbacka, J., de la Chapelle, A., Mahtani, M.M., Clines, G., Reeve-Daly, M.P., Daly, M., Hamilton, B.A., Kusumi, K., Trivedi, B. and Weaver, A. (1994) The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell, 78, 1073-1087.
13. Bissig, M., Hagenbuch, B., Stieger, B., Koller, T. and Meier, P.J. (1994) Functional expression cloning of the canalicular sulfate transport system of rat hepatocyles. J. Biol. Chem., 269, 3017-3021.
14. Rimoin, D.L. (1996) Molecular defects in the chondrodysplasias. Am. J. Med. Genet., 63, 106-110.
15. Wallis, G.A. (1995) Cartilage disorders. The importance of being sulphated. Curr. Biol., 5, 225-227.
16. Scheck, M., Parker, J. and Daentl, D. (1978) Hyaline cartilage changes in diastrophic dwarfism. Virchows Arch. A Pathol Pathol. Anat., 378, 347-359.
17. Feschenko, S.P., Krasnopolskaia, K.D., Rebrin, I.A. and Rudakov, S.S. (1989) Molecular heterogeneity of proteoglycan aggregates of human hyalin cartilage in normal conditions and in systemic bone dysplasia. Vopr. Med. Khim., 35, 24-33.
18. Orkin, R.W., Pratt, R.M. and Martin, G.R. (1976) Undersulfated chondroitin sulfate in the cartilage matrix of brachymorphic mice. Dev. Biol., 50, 82-94.
19. Ul Haque, M.F., King, L.M., Krakow, D., Cantor, R.M., Rusiniak, M.E., Swank, R.T., Superti-Furga, A., Haque, S., Abbas, H., Ahmad, W., Ahmad, M. and Cohn, D.H. (1998) Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. Nature Genet., 20, 157-162.
20. Hastbacka, J., Superti-Furga, A., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. and Lander, E.S. (1996) Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am. J. Hum. Genet., 58, 255-262.
21. Sillence, D., Worthington, S., Dixon, J., Osborn, R. and Kozlowski, K. (1997) Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Pediatr. Radiol., 27, 388-396.
22. Newbury-Ecob, R. (1998) Atelosteogenesis type 2. J. Med. Genet., 35, 49-53.
23. Superti-Furga, A., Hastbacka, J., Wilcox, W.R., Cohn, D.H., van der Harten, H.J., Rossi, A., Blau, N., Rimoin, D.L., Steinmann, B., Lander, E.S. and Gitzelmann, R. (1996) Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nature Genet., 12, 100-102.
24. Superti-Furga, A. (1996) Achondrogenesis type IB. J. Med. Genet., 33, 957-961.
25. Hastbacka, J., Kerrebrock, A., Mokkala, K., Clines, G., Lovett, M., Kaitila, I., de la Chapelle, A. and Lander, E.S. (1999) Identification of the Finnish founder mutation for Diastrophic Dysplasia. Eur. J. Hum. Genet., in press.
26. Superti-Furga, A., Rossi, A., Steinmann, B. and Gitzelmann, R. (1996) A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am. J. Med. Genet., 63, 144-147.
27. Superti-Furga, A. (1994) A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am. J. Hum. Genet., 55, 1137-1145.
28. Rossi, A., Bonaventure, J., Delezoide, A.L., Cetta, G. and Superti-Furga, A. (1996) Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter. J. Biol. Chem., 271, 18456-18464.
29. Rossi, A., van der Harten, H.J., Beemer, F.A., Kleijer, W.J., Gitzelmann, R., Steinmann, B. and Superti-Furga, A. (1996) Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Hum. Genet., 98, 657-661.
30. Rossi, A., Bonaventure. J., Delezoide, A.L., Superti-Furga, A. and Cetta, G. (1997) Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. Eur. J. Biochem., 248, 741-747.
31. Rossi, A., Kaitila, I., Wilcox, W.R., Rimoin, D.L., Steinmann, B., Cetta, G. and Superti-Furga, A. (1998) Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. Matrix Biol., 17, 361-369.
32. Hall, B.D. (1996) Diastrophic dysplasia: extreme variability within a sibship. Am. J. Med. Genet., 63, 28-33.
33. Holmberg, C. (1986) Congenital chloride diarrhoea. Clin. Gastroenterol., 15, 583-602.
34. Kere, J., Lohi, H. and Hoglund, P. (1999) Congenital chloride diarrhea. Am. J. Physiol., 276, G7-G13.
35. Gamble, J.L., Fahey, K.R., Appleton, J. and MacLachlan, E. (1945) Congenital alkalosis with diarrhea. J. Pediatr., 26, 509-518.
36. Darrow, D.C. (1945) Congenital alkalosis with diarrhea. J. Pediatr., 26, 519-532.
37. Holmberg, C., Perheentupa, J., Launiala, K. and Hallman, N. (1977) Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. Arch. Dis. Child, 52, 255-267.
38. Hoglund, P., Auranen, M., Socha, J., Popinska. K., Nazer, H., Rajaram, U., Al Sanie, A., Al-Ghanim, M., Holmberg, C., de la Chapelle, A. and Kere, J. (1998) Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. Am. J. Hum. Genet., 63, 760-768.
39. Hoglund, P., Sistonen, P., Norio, R., Holmberg, C., Dimberg, A., Gustavson, K.H., de la Chapelle, A. and Kere, J. (1995) Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am. J. Hum. Genet., 57, 95-102.
40. Tomaszewski, L., Kulesza, E. and Socha, J. (1987) Congenital chloride diarrhoea in Poland. Mater. Med. Pol., 19, 271-277.
41. Badawi, M.H., Zaki, M., Ismail, E.A. and Majid, M.A. (1998) Congenital chloride diarrhoea in Kuwait: a clinical reappraisal. J. Trop. Pediatr., 44, 296-299.
42. Kagalwalla, A.F. (1994) Congenital chloride diarrhea. A study in Arab children. J. Clin. Gastroenterol., 19, 36-40.
43. Turnberg, L.A. (1971) Abnormalities in intestinal electrolyte transport in congenital chloridorrhoea. Gut, 12, 544-551.
44. Bieberdorf, F.A., Gorden, P. and Fordtran, J.S. (1972) Pathogenesis of congenital alkalosis with diarrhea. Implications for the physiology of normal ileal electrolyte absorption and secretion. J. Clin. Invest., 51, 1958-1968.
45. Pearson, A.J., Sladen, G.E., Edmonds, C.J., Tavill, A.S., Wills, M.R. and McIntyre, N. (1973) The pathophysiology of congenital chloridorrhoea. Q. J. Med., 42, 453-466.
46. Lauras, B., Francois, B., Duc, H., Genoud, J., David, M. and Jeune, M. (1973) Contributions a l'etude de la diarrhée chlorée congénitale. Arch. Fr. Pédiatr., 30, 491-503.
47. Holmberg, C., Perheentupa, J. and Launiala, K. (1975) Colonic electrolyte transport in health and in congenital chloride diarrhea. J. Clin. Invest., 56, 302-310.
48. Yssing, M. and Friis-Hansen, B. (1966) Congenital alkalosis with diarrhea. Acta Paediatr. Scand., 55, 341-344.
49. Chaptal, J., Jean, R., Dossa, D., Meylan, F., Morel, G. and Rieu, D. (1967) Diarrhée chlorée congénitale. Etude clinique et biologique d'une observation de l'enfant. Ann. Pediatr. (Paris), 14, 326-334.
50. Jeune, M., Hermier, M., Hartemann, E., Loras, B., Haour, F., Cotton, J.B. and Collombel, C. (1967) Diarrhée chlorée congénitale avec alcalose métabolique. Pédiatrie, 22, 663-683.
51. Clark, E.B. (1977) Effect of acetazolamide on electrolyte balance in congenital chloridorrhea. J. Pediatr., 91, 148-149.
52. Rask-Madsen, J., Kamper, J., Oddsson, E. and Krag, E. (1976) Congenital chloridorrhoea. A question of reversed brush border transport processes and varying junctional tightness. Scand. J. Gastroenterol., 11, 377-383.
53. Brocklehurst, J.R. and Walker, A.C. (1978) Cholestyramine in treatment of congenital chloride diarrhoea. Med. J. Aust., 1, 504-505.
54. Minford, A.M. and Barr, D.G. (1980) Prostaglandin synthetase inhibitor in an infant with congenital chloride diarrhoea. Arch. Dis. Child, 55, 70-72.
55. Mayatepek, E., Seyberth, H.W. and Nutzenadel, W. (1992) Effects of indomethacin in congenital chloride diarrhea. J. Pediatr. Gastroenterol. Nutr., 14, 319-322.
56. Aichbichler, B.W., Zerr, C.H., Santa, A.C., Porter, J.L. and Fordtran, J.S. (1997) Proton-pump inhibition of gastric chloride secretion in congenital chloridorrhea. N. Engl. J. Med., 336, 106-109.
57. Kere, J., Sistonen, P., Holmberg, C. and de la Chapelle, A. (1993) The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. Proc. Natl Acad. Sci. USA, 90, 10686-10689.
58. Schweinfest, C.W., Henderson, K.W., Suster, S., Kondoh, N. and Papas, T.S. (1993) Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. Proc. Natl Acad. Sci. USA, 90, 4166-4170.
59. Hoglund, P., Haila, S., Socha, J., Tomaszewski, L., Saarialho-Kere, U., Karjalainen-Lindsberg, M.L., Airola, K., Holmberg, C., de la Chapelle, A. and Kere, J. (1996) Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nature Genet., 14, 316-319.
60. Hoglund, P., Haila, S., Gustavson, K.H., Taipale, M., Hannula, K., Popinska, K., Holmberg, C., Socha, J., de la Chapelle, A. and Kere, J. (1998) Clustering of private mutations in the congenital chloride diarrhea/ down-regulated in adenoma gene. Hum. Mutat., 11, 321-327.
61. Byeon, M.K., Westerman, M.A., Maroulakou, I.G., Henderson, K.W., Suster, S., Zhang, X.K., Papas, T.S., Vesely, J., Willingham, M.C., Green, J.E. and Schweinfest, C.W. (1996) The down-regulated in adenoma (DRA) gene encodes an intestine-specific membrane glycoprotein. Oncogene, 12, 387-396.
62. Byeon, M.K., Frankel, A., Papas, T.S., Henderson, K.W. and Schweinfest, C.W. (1998) Human DRA functions as a sulfate transporter in Sf9 insect cells. Protein Expr. Purif., 12, 67-74.
63. Silberg, D.G., Wang, W., Moseley, R.H. and Traber, P.G. (1995) The down regulated in adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein. J. Biol. Chem., 270, 11897-11902.
64. Moseley, R.H., Hoglund, P., Wu, G.D., Silberg, D.G., Haila, S., de la Chapelle, A., Holmberg, C. and Kere, J. (1999) Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am. J. Physiol., 276, G185-G192.
65. Hemminki, A., Hoglund, P., Pukkala, E., Salovaara, R., Jarvinen, H., Norio, R. and Aaltonen, L.A. (1998) Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene. Oncogene, 16, 681-684.
66. Antalis, T.M., Reeder, J.A., Gotley, D.C., Byeon, M.K., Walsh, M.D., Henderson, K.W., Papas, T.S. and Schweinfest, C.W. (1998) Down-regulation of the down-regulated in adenoma (DRA) gene correlates with colon tumor progression. Clin. Cancer Res., 4, 1857-1863.
67. Pendred, V. (1896) Deaf-mutism and goitre. Lancet, ii, 532.
68. Reardon, W. and Trembath, R.C. (1996) Pendred syndrome. J. Med. Genet., 33, 1037-1040.
69. Reardon, W., Coffey, R. and Trembath, R. (1997) Pendred syndrome -100 years of underascertainment? Q. J. Med., 90, 443-447.
70. Wilcox, E.R., Everett, L.A., Li, X.C., Lalwani, A.K. and Green, E.D. (1999) The PDS gene, Pendred syndrome, and non-syndromic deafness. Adv. Otorhinolaryngol., in press.
71. Fraser, G.R. (1965) Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families. Ann. Hum. Genet., 28, 201-249.
72. Mondini, C. (1791) Anatomia surdi nati sectio. De Boroniensi scientarium et artium instituto atque acedemia commnetarii. Bononiae, 7, 419-431.
73. Johnsen, T., Jorgensen, M.B. and Johnsen, S. (1986) Mondini cochlea in Pendred's syndrome. A histological study. Acta Otolaryngol. (Stockh.), 102, 239-247.
74. Johnsen, T., Larsen, C., Friis, J. and Hougaard-Jensen, F. (1987) Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. J. Laryngol Otol., 101, 1187-1192.
75. Phelps, P.D., Coffey, R.A., Trembath, R.C., Luxon, L.M., Grossman, A.B., Britton, K.E., Kendall-Taylor, P., Graham, J.M., Cadge, B.C., Stephens, S.G., Pembrey, M.E. and Reardon, W. (1998) Radiological malformations of the ear in Pendred syndrome. Clin. Radiol., 53, 268-273.
76. Cremers, W.R., Bolder, C., Admiraal, R.J., Everett, L.A., Joosten, F.B., Van Hauwe, P., Green, E.D. and Otten, B.J. (1998) Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch. Otolaryngol. Head Neck Surg., 124, 501-505.
77. Cremers, C.W., Admiraal, R.J., Huygen, P.L., Bolder, C., Everett, L.A., Joosten, F.B., Green, E.D., Van Camp, G. and Otten, B.J. (1998) Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. Int. J. Pediatr. Otorhinolaryngol., 45, 113-123.
78. Schuknecht, H.F. (1980) Mondini dysplasia; a clinical and pathological study. Ann. Otol. Rhinol. Laryngol., 89 (suppl.), 1-23.
79. Sheffield, V.C., Kraiem, Z., Beck, J.C., Nishimura, D., Stone, E.M., Salameh, M., Sadeh, O. and Glaser, B. (1996) Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genet., 12, 424-426.
80. Baldwin, C.T., Weiss, S., Fairer, L.A., De Stefano, A.L., Adair, R., Franklyn, B., Kidd, K.K., Korostishevsky, M. and Bonne-Tamir, B. (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol. Genet., 4, 1637-1642.
81. Coyle, B., Coffey, R., Armour, J.A., Gausden, E., Hochberg, Z., Grossman, A., Britton, K., Pembrey, M., Reardon, W. and Trembath, R. (1996) Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nature Genet., 12, 421-423.
82. Li, X.C., Everett, L.A., Lalwani, A.K., Desmukh, D., Friedman, T.B., Green, E.D. and Wilcox, E.R. (1998) A mutation in PDS causes non-syndromic recessive deafness. Nature Genet., 18, 215-217.
83. Coucke, P., Van Camp, G., Demirhan, O., Kabakkaya, Y., Balemans, W., Van Hauwe, P., Van Agtmael, T., Smith, R.J., Parving, A., Bolder, C.H., Cremers, C.W. and Willems, P.J. (1997) The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q. Genomics, 40, 48-54.
84. Gausden, E., Coyle, B., Armour, J.A., Coffey, R., Grossman, A., Fraser, G.R., Winter, R.M., Pembrey, M.E., Kendall-Taylor, P., Stephens, D., Luxon, L.M., Phelps, P.D., Reardon, W. and Trembath, R. (1997) Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. J. Med. Genet., 34, 126-129.
85. Green, E.D., Idol, J.R., Mohr-Tidwell, R.M., Braden, V.V., Peluso, D.C., Fulton, R.S., Massa, H.F., Magness, C.L., Wilson, A.M. and Kimura, J. (1994) Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers. Hum. Mol. Genet., 3, 489-501.
86. Green, E.D., Braden, V.V., Fulton, R.S., Lim, R., Ueltzen, M.S., Peluso, D.C., Mohr-Tidwell, R.M., Idol, J.R., Smith, L.M. and Chumakov, I. (1995) A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization, and screening. Genomics, 25, 170-183.
87. Bouffard, G.G., Iyer, L.M., Idol, J.R., Braden, V.V., Cunningham, A.F., Weintraub, L.A., Mohr-Tidwell, R.M., Peluso, D.C., Fulton, R.S., Leckie, M.P. and Green, E.D. (1997) A collection of 1814 human chromosome 7-specific STSs. Genome Res., 7, 59-64.
88. Bouffard, G.G., Idol, J.R., Braden, V.V., Iyer, L.M., Cunningham, A.F., Weintraub, L.A., Touchman, J.W., Mohr-Tidwell, D.C., Peluso, D.C., Fulton, R.S., Ueltzen, M.S., Weissenbach, J., Magness, C.L. and Green, E.D. (1997) A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb. Genome Res., 7, 673-692.
89. Everett, L.A., Glaser, B., Beck, J.C., Idol, J.R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A.D., Sheffield, V.C. and Green, E.D. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genet., 17, 411-422.
90. Schuler, G.D., Boguski, M.S., Stewart, E.A., Stein, L.D., Gyapay, G., Rice, K., White, R.E., Rodriguez-Tome, P., Aggarwal, A., Bajorek, E., Bentolila, S., Birren, B.B., Castle, A.B., Chiannilkulchai, N., Chu, A., Clee, C., Cowles, S., Day, P.J., Dibling, T., Drouot, N., Dunham, I., Duprat, S., East, C., Edwards, C., Fan, J.-B. et al. (1996) A gene map of the human genome. Science, 274, 540-546.
91. Xu, Y., Mural, R., Shah, M. and Uberbacher, E. (1994) Recognizingexons in genomic sequence using GRAIL II. Genet. Eng. (N.Y.), 16, 241-253.
92. Van Hauwe, P., Everett, L.A., Coucke, P., Scott, D.A., Kraft, M.L., Ris-Stalpers, C., Bolder, C., Otten, B., de Vijlder, J.J.M., Dietrich, N.L., Ramesh, A., Srisailapathy, S.C.R., Parving, A., Cremers, C.W.R.J., Willems, P.J., Smith, R.J.H., Green, E.D. and Van Camp, G. (1998) Two frequent missense mutations in Pendred syndrome. Hum. Mol. Genet., 7, 1099-1104.
93. Coyle, B., Reardon, W., Herbrick, J.A., Tsui, L.C., Gausden, E., Lee, J., Coffey, R., Grueters, A., Grossman, Phelps, P.D., Luxon, L., Kendall-Taylor, P., Scherer, S.W. and Trembath, R.C. (1998) Molecular analysis of the PDS gene in Pendred syndrome. Hum. Mol. Genet., 7, 1105-1112.
94. Kopp, P., Arseven, O.K., Sabacan, L., Kotlar, T., Dupuis, J., Cavaliere, H., Santos, C.L., Jameson, J.L. and Medeiros-Neto, G. (1999) Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. J. Clin. Endocrinol. Metab., 84, 336-341.
95. Coucke, P., Van Hauwe, P., Everett, L.A., Demirhan, O., Kabakkaya, Y., Dietrich, N.L., Smith, R.J.H., Coyle, E., Reardon, W., Trembath, R., Willems, P.J., Green, E.D. and Van Camp, G. (1999) Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J. Med. Genet., 36, 475-477.
96. Usami, S., Abe, S., Weston, M.D., Shinkawa, H., Van Camp, G. and Kimberling, W.J. (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum. Genet., 104, 188-192.
97. Scott, D.A., Wang, R., Kreman, T.M., Sheffield, V.C. and Karniski, L.P. (1999) The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genet., 21, 440-443.
98. Dai, G., Levy, O. and Carrasco, N. (1996) Cloning and characterization of the thyroid iodide transporter. Nature, 379, 458-460.
99. Everett, L.A., Morsli, H., Wu, D.K. and Green, E.D. (1999) Expression pattern of the mouse ortholog of the Pendred syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc. Natl Acad. Sci. USA, 96, 9729-9732.
100. Karniski, L.P., Lotscher, M., Fucentese, M., Hilfiker, H., Biber, J. and Murer, H. (1998) Immunolocalization of sat-1 sulfate/oxalate/bicarbonate anion exchanger in the rat kidney. Am. J. Physiol., 275, F79-F87.
101. Satoh, H., Susaki, M., Shukunami, C., Iyama, K., Negoro, T. and Hiraki, Y. (1998) Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. J. Biol. Chem., 273, 12307-12315.