SLC26A3 mutations in congenital chloride diarrhea

Human Mutation

Volumn 20, Issue 6, 2002, Pages 425-438

  Mäkelä, Siru ^a   Kere, Juha ^a,b   Holmberg, Christer ^a   Höglund, Pia ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Chloride transporter; CLD; Congenital chloride diarrhea; DRA; SLC26A3

Indexed keywords

BICARBONATE; CHLORIDE ION; DNA; MESSENGER RNA; SODIUM ION;

ANION TRANSPORT; CHLORIDE DIARRHEA; CHLORIDE TRANSPORT; CHROMOSOMAL LOCALIZATION; DIARRHEA; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SLC 26A3 GENE;

ANTIPORTERS; CARRIER PROTEINS; CHLORIDES; DIARRHEA; GENE EXPRESSION; HUMANS; MEMBRANE PROTEINS; MUTATION; POLYMORPHISM, GENETIC;

ALIAS;

EID: 0036451660     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10139     Document Type: Review

References (90)

1. Abdullah AMA, Shahed MM, Katugampola S, Patel PJ. 1990. Congenital chloride diarrhoea: Case report and review of the literature. Ann Trop Paed 10:71-74.
2. Al-Abbad A, Nazer H, Sanjad S, Al-Sabban E. 1995. Congenital chloride diarrhea: A single center experience with ten patients. Ann Saudi Med 15:466-469.
3. Antalis TM, Reeder JA, Gotley DC, Byeon MK, Walsh MD, Henderson KW, Papas TS, Schweinfest CW. 1998. Down-regulation of the down-regulated in adenoma (DRA) gene correlates with colon tumor progression. Clin Cancer Res 4:1857-1863.
4. Antonarakis SE, Krawczak M, Cooper DN. 2000. Disease-causing mutations in the human genome. Eur J Pediatr 159(Suppl 3):S173-178.
5. Aravind L, Koonin EV. 2000. The STAS domain - A link between anion transporters and antisigma-factor antagonists. Curr Biol 10:R53-R55.
6. Badawi MH, Zaki M, Ismail EA, Majid Molla A. 1998. Congenital chloride diarrhoea in Kuwait: A clinical reappraisal. J Trop Pediatr 44:296-299.
7. Bieberdorf F, Gorden P, Fordtran JS. 1972. Pathogenesis of congenital alkalosis with diarrhea. J Clin Invest 51:1958-1968.
8. Bissig M, Hagenbuch B, Stieger B, Koller T, Meier PJ. 1994. Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes. J Biol Chem 269:3017-3021.
9. Byeon MK, Westerman MA, Maroulakou IG, Henderson KW, Suster S, Zhang XK, Papas TS, Vesely J, Willingham MC, Green JE, Schweinfest CW. 1996. The down-regulated in adenoma (DRA) gene encodes an intestine-specific membrane glycoprotein. Oncogene 12:387-396.
10. Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. 2001. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17:403-411.
11. Cutz E, Rhoads JM, Drumm B, Sherman PM, Durie PR, Forstner GG. 1989. Microvillus inclusion disease: An inherited defect of brush-border assembly and differentiation. New Eng J Med 320:646-651.
12. Cutz E, Sherman PM, Davidson GP. 1997. Enteropathies associated with protracted diarrhea of infancy: Clinicopathological features, cellular and molecular mechanisms. Pediatr Pathol Lab Med 17:335-367.
13. Darrow DC. 1945. Congenital alkalosis with diarrhea. J Pediat 26:519-532.
14. de la Chapelle A. 1993. Disease gene mapping in isolated human populations: The example of Finland. J Med Genet 30:857-865.
15. Desjeux J-F. 1996. Congenital transport defects. In: Walker WA, et al., editors. Pediatric Gastrointestinal Disease. 2nd Ed. Mosby. BC Decker: Philadelphia. pp 792-816.
16. Etani Y, Mushiake S, Tajiri H, Miki K, Kozaiva K, Sawada A, Tada K, Ozono K, Okada S. 1998. A novel mutation of the down-regulated in adenoma gene in a Japanese case with congenital chloride diarrhea. Mutation in brief #198. Online. Hum Mutat 12:362.
17. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. 1997. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422.
18. Everett LA, Morsli H, Wu DK, Green ED. 1999. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 96:9727-9732.
19. Fell JM, Miller MP, Finkel Y, Booth IW. 1992. Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea. J Pediatr Gastroenterol Nutr 15:112-116.
20. Gamble JL, Fahey KR, Appleton J, McLachlan E. 1945. Congenital alkalosis with diarrhea. J Pediat 26:509-518.
21. Gawenis LR, Stien X, Shull GE, Schultheis PJ, Woo AL, Walker NM, Clarke LL. 2002. Intestinal NaCl transport in NHE2 and NHE3 knockout mice. Am J Physiol Gastrointest Liver Physiol 282:G776-784.
22. Greeley T, Shumaker H, Wang Z, Schweinfest CW, Soleimani M. 2001. Downregulated in adenoma and putative anion transporter are regulated by CFTR in cultured pancreatic duct cells. Am J Physiol Gastrointest Liver Physiol 281:G1301-G1308.
23. Haila S, Höglund P, Scherer SW, Lee JR, Kristo P, Coyle B, Trembath R, Holmberg C, de la Chapelle, Kere J. 1998. Genomic structure of the human chloride diarrhea (CLD) gene. Gene 214:87-89.
24. Haila S, Saarialho-Kere U, Karjalainen-Lindsberg M-L, Lohi H, Airola K, Holmberg C, Hästbacka J, Kere J, Höglund P. 2000. The congenital chloride diarrhea gene (CLD) is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic cells. J Cell Histochem Biol 113:279-286.
25. Hästbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, Lander ES. 1994. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087.
26. Hemminki A, Höglund P, Pukkala E, Salovaara R, Järvinen H, Norio R, Aaltonen LA. 1998. Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene. Oncogene 5:681-684.
27. Höglund P, Sistonen P, Norio R, Holmberg C, Dimberg A, Gustavson K-H, de la Chapelle, Kere J. 1995. Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet 7:95-102.
28. Höglund P, Haila S, Scherer SW, Tsui LC, Green ED, Weissenbach J, Holmberg C, de la Chapelle A, Kere J. 1996a. Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. Genome Res 6:202-210.
29. Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg M-L, Airola K, Holmberg C, de la Chapelle A, Kere J. 1996b. Mutations in the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhea. Nat Genet 14:316-319.
30. Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Holmberg C, de la Chapelle A, Kere J. 1998a. Genetic background of congenital chloride diarrhea in high frequency populations: Finland, Poland, and Saudi Arabia and Kuwait. Am J Hum Genet 63:760-768.
31. Höglund P, Haila S, Gustavson K-H, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, de la Chapelle A, Kere J. 1998b. Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat 11:321-327.
32. Höglund P, Holmberg C, Sherman P, Kere J. 2001a. Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: Implications for early diagnosis and treatment. Gut 48:724-727.
33. Höglund P, Sormaala M, Haila S, Socha J, Rajaram U, Scheurlen W, Sinaasappel M, de Jonge H, Holmberg C, Yoshikawa H, Kere J. 2001b. Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. Hum Mutat 18:233-242.
34. Holmberg C, Perheentupa J, Launiala K. 1975. Colonic electrolyte transport in health and in congenital chloride diarrhea. J Clin Invest 56:302-310.
35. Holmberg C, Perheentupa J, Launiala K, Hallman N. 1977a. Congenital chloride diarrhea. Clinical analysis of 21 Finnish patients. Arch Dis Child 52:255-267.
36. Holmberg C, Perheentupa J, Pasternack A. 1977b. The renal lesion in congenital chloride diarrhea. J Pediatr 5:738-743.
37. Holmberg C. 1978. Electrolyte economy and its hormonal regulation in congenital chloride diarrhea. Pediatric Res 12:82-86.
38. Holmberg C, Perheentupa J. 1985. Congenital Na+ diarrhea: A new type of secretory diarrhea. J Pediat 106:56-62.
39. Holmberg C. 1986. Congenital chloride diarrhea. Clin Gastroenterol 3:583-602.
40. - exchange in rabbit, rat, and human duodenum. Gastroenterology 122:709-724.
41. Kagalwalla AE 1994. Congenital chloride diarrhea. A study in Arab children. J Clin Gastroenterol 19:36-40.
42. Kere J, Sistonen P, Holmberg C, 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.
43. Khan SN, Yaish HM. 1992. Misdiagnosis of congenital chloride-loosing diarrhea. J Perinatol XII:112-114.
44. Kirkinen P, Jouppila P. 1984. Prenatal ultrasonic findings in congenital chloride diarrhoea. Prenat Diagn 4:457-461.
45. Krawczak M, Cooper DN. 1991. Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441.
46. Lamprecht G, Weinman EJ, Yun CH. 1998. The role of NHERF and E3KARP in the cAMP-mediated inhibition of NHE3. J Biol Chem 273:29972-29978.
47. Lamprecht G, Heil A, Lin Wu E, Yun C, Gregor M, Seidler U. 2000. Dra (Down Regulated in Adenoma) Binds in Vitro to the Second PDZ Domain of NHERF and E3KARP. Intestinal Transport and Barrier Functions (Abstract), September 8-10, Tubingen, Germany.
48. Langer JC, Winthrop AL, Burrows RF, Issenman RM, Caco CC. 1991. False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea. J Pediatr Surg 11:1282-1284.
49. Lohi H, Kujala M, Kerkelä E, Saarialho-Kere U, Kestilä M, Kere J. 2000. Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics 70:102-112.
50. Lohi H, Kujala M, Mäkelä S, Lehtonen E, Kestilä M, Saarialho-Kere U, Markovich D, Kere J. 2002a. Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem 19:277:14246-14254.
51. Lohi H, Mäkelä S, Pulkkinen K, Höglund P, Karjalainen-Lindsberg M-L, Puolakkainen P, Kere J. 2002b. Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis. Am J Physiol 238:G567-G575.
52. Lubani MM, Doudin KI, Sharda DC, Shaltout AA, al-Shab TS, Abdul Al YK, Said MA, Salhi MM, Ahmed SA. 1989. Congenital chloride diarrhea in Kuwaiti children. Eur J Pediatr 148:33.
53. Ludwig J, Oliver D, Frank G, Klocker N, Gummer AW, Fakler B. 2001. Reciprocal electromechanical properties of rat prestin: The motor molecule from rat outer hair cells. Proc Natl Acad Sci USA 98:4178-4183.
54. Mahajan RJ, Baldwin ML, Harig JM, Ramaswamy K, Dudeja PK. 1996. Chloride transport in human proximal colonic apical membrane vesicles. Biochim Biophys Acta 1280:12-18.
55. Melvin JE, Park K, Richardson L, Schultheis PJ, Shull GE. 1999. Mouse down-regulated in adenoma (DRA) is an intestinal Cl(-)/HCO(3)(-) exchanger and is up-regulated in colon of mice lacking the NHE3 Na(+)/H(+) exchanger. J Biol Chem 274:22855-22861.
56. Moseley RH, Höglund P, Wu GD, Silberg DG, Haila S, de la Chapelle A, Holmberg C, Kere J. 1999. The down regulated in adenoma (DRA) gene encodes an anion exchanger that is defective in congenital chloride diarrhea. Am J Physiol 276:G185-G192.
57. Muller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, Ellemunter H, Fruhwirth M, Offner F, Hofer S, Muller W, Booth IW, Heinz-Erian P. 2000. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology 119:1506-1513.
58. Murray CJ, Lopez AD. 1997. Global mortality, disability, and the contribution of risk factors: Global burden of disease study. Lancet 349:1436-1442.
59. Norio R, Perheentupa J, Launiala K, Hallman N. 1971. Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. Clin Genet 2:182-192.
60. Norio R. 1981. Diseases of Finland and Scandinavia. In: Rothschild H, editor. Biocultural Aspects of Disease. New York: Academic Press. p 359-415.
61. Oliver D, He DZ, Klocker N, Ludwig J, Schulte U, Waldegger S, Ruppersberg JP, Dallos P, Fakler B. 2001. Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein. Science 292:2340-2343.
62. Patrizio P, Salameh WA. 1998. Expression of the cystic fibrosis transmembrane conductance regulator (CFTR) mRNA in normal and pathological adult human epididymis. J Reprod Fertil Suppl 53:261-270.
63. Perheentupa J, Eklund J, Kojo N. 1965. Familial chloride diarrhoea ("Congenital alkalosis with diarrhoea"). Acta Paediatr Scand Suppl 159:119-120.
64. Rossi A, Superi-Furga A. 2001. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 Novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat 17:159-171.
65. Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED. 2001. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci USA 98:4221-4226.
66. Satoh H, Susaki M, Shukunami C, Iyama K, Negoro T, 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.
67. Savilahti E, Launiala K, Kuitunen P. 1983. Congenital lactase deficiency. A clinical study on 16 patients. Arch Dis Child 58:246-252.
68. Schweinfest CW, Henderson KW, Suster S, Kondoh N, Papas TS. 1993. Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. Proc Natl Acad Sci USA 90:4166-4170.
69. Scott DA, Wang R, Kreman TM, Sheffield VC, Karnishki LP 1999. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 21:440-443.
70. Shaltout AA, Khuffash FA, Hiilal AA, El Ghanem MM. 1989. Pattern of protracted diarrhoea among children in Kuwait. Ann Trop Paed 9:30-32.
71. Shawoosh HA, Badgaish F, Raboie E, Basrawi T. 2000. Congenital chloride diarrhea from the west coast of the Kingdom of Saudi Arabia. Saudi Med J 21:207-208.
72. Shneider BL. 2001. Intestinal bile acid transport: Biology, physiology, and pathophysiology. J Pediatr Gastroenterol Nutr 32:407-417.
73. Short DB, Trotter KW, Reczek D, Kreda SM, Bretscher A, Boucher RC, Stutts MJ, Milgram SL. 1998. An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton. J Biol Chem 273:19797-19801.
74. Silberg DG, Wang W, Moseley RH, Traber PG. 1995. The down regulated in adenoma (dra) gene encodes an intestine-specific membrane sulfate transport protein. J Biol Chem 270:11897-11902.
75. Songyang Z, Fanning AS, Fu C, Xu J, Marfatia SM, Chishti AH, Crompton A, Chan AC, Anderson JM, Cantley LC. 1997. Recognition of unique carboxyl-terminal motifs by distinct PDZ domains. Science 275:73-77.
76. Sun F, Hug MJ, Lewarchik CM, Yun C, Bradbury NA, Frizzell RA. 2000. E3KARP mediates the association of ezrin and protein kinase A with the cystic fibrosis transmembrane conductance regulator in airway cells. J Biol Chem 275:29539-29546.
77. Tomaszewski LM, Kulesza E, Socha J. 1987. Congenital chloride diarrhoea in Poland. Mat Med Pol 4:271-277.
78. Touré A, Morin L, Pineau C, Becq F, Dorseuil O, Gacon G. 2001. Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to RhoGTPase signaling. J Biol Chem 276:20309-20315.
79. Turk E, Zabel B, Mundlos S, Dyer J, Wright EM. 1991. glucose/galactose malabsorption caused by a defect in the Na(+)/glucose cotransporter. Nature 350:354-356.
80. Turnberg LA. 1970. Electrolyte absorption from the colon. Gut 11:1049-1054.
81. Turnberg LA. 1971. Abnormalities in intestinal electrolyte transport in congenital chloridorrhoea. Gut 12:544-551.
82. Vincourt JB, Jullien D, Kossida S, Amalric F, Girard JP. 2002. Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney. Genomics 79:249-256.
83. Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C. 2001. Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. Genomics 72:43-50.
84. Weinman EJ, Steplock D, Wang Y, Shenolikar S. 1995. Characterization of a protein cofactor that mediates protein kinase A regulation of the renal brush border membrane Na(+)-H+ exchanger. J Clin Invest 95:2143-2149.
85. Wheat VJ, Shumaker H, Burnham C, Shull GE, Yankaskas JR, Soleimani M. 2000. CFTR induces the expression of DRA along with Cl(-)/HCO(3)(-) exchange activity in tracheal epithelial cells. Am J Physiol Cell Physiol 279:C62-C71.
86. Yang H, Jiang W, Furth EE, Wen X, Katz JP, Sellon RK, Silberg DG, Antalis TM, Schweinfest CW, Wu GD. 1998. Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. Am J Physiol 275:G1445-G1453.
87. Yoshikawa H, Watanabe T, Abe T, Sato M, Oda Y. 2000. Japanese siblings with congenital chloride diarrhea. Pediatr Int 42:313-315.
88. + exchanger, NHE3, requires an associated regulatory protein. Proc Natl Acad Sci USA 94:3010-3015.
89. Zheng J, Shen W, He DZ, Long KB, Madison LD, Dallos P 2000. Prestin is the motor protein of cochlear outer hair cells. Nature 405:149-155.
90. Zizak M, Lamprecht G, Steplock D, Tariq N, Shenolikar S, Donowitz M, Yun CH, Weinman EJ. 1999. cAMP-induced phosphorylation and inhibition of Na(+)/H(+) exchanger 3 (NHE3) are dependent on the presence but not the phosphorylation of NHE regulatory factor. J Biol Chem 274:24753-24758.