Update on SLC26A3 mutations in congenital chloride diarrhea

Human Mutation

Volumn 32, Issue 7, 2011, Pages 715-722

  Wedenoja, Satu ^a   Pekansaari, Elina ^a   Höglund, Pia ^b   Mäkelä, Siru ^c   Holmberg, Christer ^a   Kere, Juha ^a,d  

^a UNIVERSITY OF HELSINKI   (Finland)

^b Rinnekoti Foundation Finland   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Anion transport; Chloride diarrhea; CLD; SLC26A3

Indexed keywords

CARRIER PROTEIN; CHLORIDE; SOLUTE CARRIER FAMILY 26 MEMBER 3 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUSTRIA; BELGIUM; CANADA; CHINA; CHLORIDE DIARRHEA; CONGENITAL CHLORIDE DIARRHEA; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; EXON; FINLAND; FRANCE; GENE DELETION; GENE FUNCTION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GROWTH RETARDATION; HUMAN; HYPERPLASIA; ITALY; JAPAN; KUWAIT; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NETHERLANDS; NONHUMAN; NONSENSE MUTATION; NORWAY; PHENOTYPE; POLAND; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE, FUNCTION AND VARIABILITY; QATAR; RECTUM PROLAPSE; SAUDI ARABIA; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; SPLICING DEFECT; SWEDEN; TURKEY (REPUBLIC); UNITED KINGDOM; UNITED STATES; VIET NAM;

ANIMALS; ANTIPORTERS; CODON, NONSENSE; DIARRHEA; DISEASE MODELS, ANIMAL; GENETIC ASSOCIATION STUDIES; HUMANS; METABOLISM, INBORN ERRORS; MICE; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; PROTEIN ISOFORMS;

EID: 79959727272     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21498     Document Type: Article

References (60)

1. Alrefai WA, Wen X, Jiang W, Katz JP, Steinbrecher KA, Cohen MB, Williams IR, Dudeja PK, Wu GD. 2007. Molecular cloning and promoter analysis of downregulated in adenoma (DRA). Am J Physiol Gastrointest Liver Physiol 293:G923-G934.
2. 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.
3. Aravind L, Koonin EV. 2000. The STAS domain-a link between anion transporters and antisigma-factor antagonists. Curr Biol 10:R53-R55.
4. Arnheim N, Calabrese P. 2009. Understanding what determines the frequency and pattern of human germline mutations. Nat Rev Genet 10:478-488.
5. Asano K, Matsushita T, Umeno J, Hosono N, Takahashi A, Kawaguchi T, Matsumoto T, Matsui T, Kakuta Y, Kinouchi Y, Shimosegawa T, Hosokawa M, Arimura Y, Shinomura Y, Kiyohara Y, Tsunoda T, Kamatani N, Iida M, Nakamura Y, Kubo M. 2009. A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the japanese population. Nat Genet 41:1325-1329.
6. Bairoch A, Apweiler R, Wu CH, Barker WC, Boeckmann B, Ferro S, Gasteiger E, Huang H, Lopez R, Magrane M, Martin MJ, Natale DA, O'Donovan C, Redaschi N, Yeh LS. 2005. The universal protein resource (UniProt). Nucleic Acids Res 33:D154-D159.
7. Booth IW, Stange G, Murer H, Fenton TR, Milla PJ. 1985. Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea. Lancet 1:1066-1069.
8. 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.
9. Canani RB, Terrin G, Cirillo P, Castaldo G, Salvatore F, Cardillo G, Coruzzo A, Troncone R. 2004. Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology 127:630-634.
10. Chernova MN, Jiang L, Shmukler BE, Schweinfest CW, Blanco P, Freedman SD, Stewart AK, Alper SL. 2003. Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in xenopus oocytes. J Physiol 549:3-19.
11. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. 2009. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 106:19096-19101.
12. Darrow DC. 1945. Congenital alkalosis with diarrhea. J Pediatr 26:519-532.
13. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
14. den Dunnen JT, Paalman MH. 2003. Standardizing mutation nomenclature: why bother? Hum Mutat 22:181-182.
15. Dorwart MR, Shcheynikov N, Baker JM, Forman-Kay JD, Muallem S, Thomas PJ. 2008. Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. J Biol Chem 283:8711-8722.
16. 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.
17. Field M. 2003. Intestinal ion transport and the pathophysiology of diarrhea. J Clin Invest 111:931-943.
18. Gamble JL, Fahey KR, Appleton J, MacLachlan E. 1945. Congenital alkalosis with diarrhea. J Pediatr 26:509-518.
19. 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.
20. Greger R. 2000. Role of CFTR in the colon. Annu Rev Physiol 62:467-491.
21. Haila S, Hoglund P, Scherer SW, Lee JR, Kristo P, Coyle B, Trembath R, Holmberg C, de la Chapelle A, Kere J. 1998. Genomic structure of the human congenital chloride diarrhea (CLD) gene. Gene 214:87-93.
22. Haila S, Saarialho-Kere U, Karjalainen-Lindsberg ML, Lohi H, Airola K, Holmberg C, Hastbacka J, Kere J, Hoglund P. 2000. The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. Histochem Cell Biol 113:279-286.
23. Hastbacka J, de la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A. 1994. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087.
24. Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. 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.
25. Heinz-Erian P, Oberauer M, Neu N, Muller T, Scholl-Burgi S, Hager J, Pittschieler K, Janecke AR. 2008. A novel homozygous SLC26A3 nonsense mutation in a tyrolean girl with congenital chloride diarrhea. J Pediatr Gastroenterol Nutr 47:363-366.
26. Hihnala S, Hoglund P, Lammi L, Kokkonen J, Ormala T, Holmberg C. 2006a. Long-term clinical outcome in patients with congenital chloride diarrhea. J Pediatr Gastroenterol Nutr 42:369-375.
27. Hihnala S, Kujala M, Toppari J, Kere J, Holmberg C, Hoglund P. 2006b. Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea. Mol Hum Reprod 12:107-111.
28. Hoglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, 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.
29. Hoglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J. 1996. Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet 14:316-319.
30. Hoglund P, Hihnala S, Kujala M, Tiitinen A, Dunkel L, Holmberg C. 2006. Disruption of the SLC26A3-mediated anion transport is associated with male subfertility. Fertil Steril 85:232-235.
31. Hoglund P, Holmberg C, Sherman P, Kere J. 2001. 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.
32. Holmberg C. 1978. Electrolyte economy and its hormonal regulation in congenital chloride diarrhea. Pediatr Res 12:82-86.
33. Holmberg C. 1986. Congenital chloride diarrhoea. Clin Gastroenterol 15:583-602.
34. Holmberg C, Perheentupa J. 1985. Congenital Na+ diarrhea: a new type of secretory diarrhea. J Pediatr 106:56-61.
35. Holmberg C, Perheentupa J, Launiala K, Hallman N. 1977. Congenital chloride diarrhoea. clinical analysis of 21 finnish patients. Arch Dis Child 52:255-267.
36. Jacob P, Rossmann H, Lamprecht G, Kretz A, Neff C, Lin-Wu E, Gregor M, Groneberg DA, Kere J, Seidler U. 2002. Down-regulated in adenoma mediates apical exchange in rabbit, rat, and human duodenum. Gastroenterology 122:709-724.
37. 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.
38. Ko SB, Shcheynikov N, Choi JY, Luo X, Ishibashi K, Thomas PJ, Kim JY, Kim KH, Lee MG, Naruse S, Muallem S. 2002. A molecular mechanism for aberrant CFTR-dependent HCO(3)(-) transport in cystic fibrosis. EMBO J 21:5662-5672.
39. Ko SB, Zeng W, Dorwart MR, Luo X, Kim KH, Millen L, Goto H, Naruse S, Soyombo A, Thomas PJ, Muallem S. 2004. Gating of CFTR by the STAS domain of SLC26 transporters. Nat Cell Biol 6:343-350.
40. Lamprecht G, Seidler U. 2006. The emerging role of PDZ adapter proteins for regulation of intestinal ion transport. Am J Physiol Gastrointest Liver Physiol 291:G766-G777.
41. Makela S, Kere J, Holmberg C, Hoglund P. 2002. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat 20:425-438.
42. Martin MG, Turk E, Lostao MP, Kerner C, Wright EM. 1996. Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption. Nat Genet 12:216-220.
43. 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.
44. Moseley RH, Hoglund P, Wu GD, Silberg DG, Haila S, de la Chapelle A, Holmberg C, Kere J. 1999. Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am J Physiol 276:G185-G192.
45. Mount DB, Romero MF. 2004. The SLC26 gene family of multifunctional anion exchangers. Pflugers Arch 447:710-721.
46. 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.
47. Ouwendijk J, Moolenaar CE, Peters WJ, Hollenberg CP, Ginsel LA, Fransen JA, Naim HY. 1996. Congenital sucrase-isomaltase deficiency. identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-golgi compartment. J Clin Invest 97:633-641.
48. Rossmann H, Jacob P, Baisch S, Hassoun R, Meier J, Natour D, Yahya K, Yun C, Biber J, Lackner KJ, Fiehn W, Gregor M, Seidler U, Lamprecht G. 2005. The CFTR associated protein CAP70 interacts with the apical exchanger DRA in rabbit small intestinal mucosa. Biochemistry 44:4477-4487.
49. 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.
50. Schweinfest CW, Spyropoulos DD, Henderson KW, Kim JH, Chapman JM, Barone S, Worrell RT, Wang Z, Soleimani M. 2006. slc26a3 (dra)-deficient mice display chloride-losing diarrhea, enhanced colonic proliferation, and distinct up-regulation of ion transporters in the colon. J Biol Chem 281:37962-37971.
51. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. 2001. dbSNP: The NCBI database of genetic variation. Nucleic Acids Res 29:308-311.
52. Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinmann B, Lander ES, Gitzelmann R. 1996. Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet 12:100-102.
53. Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J. 1999. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36:621-624.
54. Taguchi T, Testa JR, Papas TS, Schweinfest C. 1994. Localization of a candidate colon tumor-suppressor gene (DRA) to 7q22-q31.1 by fluorescence in situ hybridization. Genomics 20:146-147.
55. Wedenoja S, Hoglund P, Holmberg C. 2010. Review article: The clinical management of congenital chloride diarrhoea. Aliment Pharmacol Ther 31:477-485.
56. Wedenoja S, Holmberg C, Hoglund P. 2008a. Oral butyrate in treatment of congenital chloride diarrhea. Am J Gastroenterol 103:252-254.
57. Wedenoja S, Ormala T, Berg UB, Halling SF, Jalanko H, Karikoski R, Kere J, Holmberg C, Hoglund P. 2008b. The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. Kidney Int 74:1085-1093.
58. 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.
59. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE. 2008. Improving sequence variant descriptions in mutation databases and literature using the mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6-13.
60. 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.