Analysis of cellular localization and function of carboxy-terminal mutants of pendrin

Cellular Physiology and Biochemistry

Volumn 28, Issue 3, 2011, Pages 423-434

  Bizhanova, Aigerim ^a   Chew, Teng Leong ^a   Khuon, Satya ^a   Kopp, Peter ^a,b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Iodide transport; Mutation; Pendrin; SLC26A4; Thyroid hormone synthesis

Indexed keywords

ANION TRANSPORT PROTEIN; CYCLIC AMP DEPENDENT PROTEIN KINASE; FORSKOLIN; IODIDE; MUTANT PROTEIN; PENDRIN; STAS DOMAIN PROTEIN; SULFATE; THYROTROPIN; UNCLASSIFIED DRUG;

ARTICLE; BASOLATERAL MEMBRANE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME ACTIVE SITE; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; THYROID CELL; THYROID HORMONE SYNTHESIS; WILD TYPE;

EID: 82255163785     PISSN: 10158987     EISSN: 14219778     Source Type: Journal    
DOI: 10.1159/000335105     Document Type: Article

References (39)

1. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-422. (Pubitemid 27518389)
2. Bizhanova A, Kopp P: Genetics and phenomics of Pendred syndrome. Mol Cell Endocrinol 2010;322:83-90.
3. Kopp P, Pesce L, Solis SJ: Pendred syndrome and iodide transport in the thyroid. Trends Endocrinol Metab 2008;19:260-268.
4. Yoon JS, Park HJ, Yoo SY, Namkung W, Jo MJ, Koo SK, Park HY, Lee WS, Kim KH, Lee MG: Heterogeneity in the processing defect of SLC26A4 mutants. J Med Genet 2008;45:411-419. (Pubitemid 351977130)
5. Rotman-Pikielny P, Hirschberg K, Maruvada P, Suzuki K, Royaux IE, Green ED, Kohn LD, Lippincott-Schwartz J, Yen PM: Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. Hum Mol Genet 2002;11:2625-2633. (Pubitemid 35174692)
6. Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab 2002;87:1778-1784. (Pubitemid 34615268)
7. Pera A, Dossena S, Rodighiero S, Gandia M, Botta G, Meyer G, Moreno F, Nofziger C, Hernandez-Chico C, Paulmichl M: Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. Proc Natl Acad Sci USA 2008;105:18608-18613.
8. Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC: Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and nonsyndromic hearing loss (DFNB4). Hum Mol Genet 2000;9:1709-1715. (Pubitemid 30427008)
9. Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Botta G, Meyer G, Fugazzola L, Beck-Peccoz P, Paulmichl M: Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome. J Mol Endocrinol 2009;43:93-103.
10. Dossena S, Vezzoli V, Cerutti N, Bazzini C, Tosco M, Sironi C, Rodighiero S, Meyer G, Fascio U, Furst J, Ritter M, Fugazzola L, Persani L, Zorowka P, Storelli C, Beck-Peccoz P, Botta G, Paulmichl M: Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome. Cell Physiol Biochem 2006;17:245-256. (Pubitemid 43946280)
11. Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 2009;30:599-608.
12. Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL: Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol Genomics 2009;38:281-290.
13. Everett LA, Green ED: A family of mammalian anion transporters and their involvement in human genetic diseases. Hum Mol Genet 1999;8:1883-1891. (Pubitemid 29458666)
14. Zheng J, Shen W, He DZ, Long KB, Madison LD, Dallos P: Prestin is the motor protein of cochlear outer hair cells. Nature 2000;405:149-155. (Pubitemid 30313525)
15. Bizhanova A, Kopp P: Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid. Endocrinology 2009;150:1084-1090.
16. Aravind L, Koonin EV: The STAS domain-a link between anion transporters and antisigma-factor antagonists. Curr Biol 2000;10:R53-55.
17. Sharma AK, Ye L, Baer CE, Shanmugasundaram K, Alber T, Alper SL, Rigby AC: Solution structure of the guanine nucleotide-binding STAS domain of SLC26-related SulP protein Rv1739c from Mycobacterium tuberculosis. J Biol Chem 2011;286:8534-8544.
18. Shcheynikov N, Ko SB, Zeng W, Choi JY, Dorwart MR, Thomas PJ, Muallem S: Regulatory interaction between CFTR and the SLC26 transporters. Novartis Found Symp 2006;273:177-186; discussion 186-192, 261-174.
19. Ko SB, Shcheynikov N, Choi JY, Luo X, Ishibashi K, Thomas PJ, Kim JY, Kim KH, Lee MG, Naruse S, Muallem S: A molecular mechanism for aberrant CFTR-dependent HCO3-transport in cystic fibrosis. EMBO J 2002;21:5662-5672. (Pubitemid 35315266)
20. Ko SB, Zeng W, Dorwart MR, Luo X, Kim KH, Millen L, Goto H, Naruse S, Soyombo A, Thomas PJ, Muallem S: Gating of CFTR by the STAS domain of SLC26 transporters. Nat Cell Biol 2004;6:343-350. (Pubitemid 38584824)
21. Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP: The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-443. (Pubitemid 29159585)
22. Everett LA: New insights into the role of pendrin (SLC26A4) in inner ear fluid homeostasis. Novartis Found Symp 2006;273:213-225; discussion 225-230, 261-214.
23. Soleimani M, Greeley T, Petrovic S, Wang Z, Amlal H, Kopp P, Burnham CE: Pendrin: an apical Cl-/OH-/HCO3-exchanger in the kidney cortex. Am J Physiol Renal Physiol 2001;280:F356-364.
24. Pedemonte N, Caci E, Sondo E, Caputo A, Rhoden K, Pfeffer U, Di Candia M, Bandettini R, Ravazzolo R, Zegarra-Moran O, Galietta LJ: Thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels. J Immunol 2007;178:5144-5153. (Pubitemid 46595298)
25. Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, Kohn LD, Green ED: Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology 2000;141:839-845. (Pubitemid 32250509)
26. Everett LA, Morsli H, Wu DK, Green ED: 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 1999;96:9727-9732. (Pubitemid 29398800)
27. Gillam MP, Sidhaye AR, Lee EJ, Rutishauser J, Stephan CW, Kopp P: Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux. J Biol Chem 2004;279:13004-13010. (Pubitemid 38445877)
28. Nilsson M, Bjorkman U, Ekholm R, Ericson LE: Iodide transport in primary cultured thyroid follicle cells: evidence of a TSH-regulated channel mediating iodide efflux selectively across the apical domain of the plasma membrane. Eur J Cell Biol 1990;52:270-281. (Pubitemid 20281563)
29. Halmi NS, Granner DK, Doughman DJ, Peters BH, Muller G: Biphasic effect of TSH on thyroidal iodide collection in rats. Endocrinology 1960;67:70-81.
30. Weiss SJ, Philp NJ, Grollman EF: Iodide transport in a continuous line of cultured cells from rat thyroid. Endocrinology 1984;114:1090-1098. (Pubitemid 14134351)
31. Nilsson M, Bjorkman U, Ekholm R, Ericson LE: Polarized efflux of iodide in porcine thyrocytes occurs via a cAMPregulated iodide channel in the apical plasma membrane. Acta Endocrinol (Copenh) 1992;126:67-74.
32. Weiss SJ, Philp NJ, Grollman EF: Effect of thyrotropin on iodide efflux in FRTL-5 cells mediated by Ca2+. Endocrinology 1984;114:1108-1113. (Pubitemid 14134353)
33. Weiss SJ, Philp NJ, Ambesi-Impiombato FS, Grollman EF: Thyrotropin-stimulated iodide transport mediated by adenosine 3',5'-monophosphate and dependent on protein synthesis. Endocrinology 1984;114:1099-1107. (Pubitemid 14134352)
34. Pesce L, Bizhanova A, Caraballo SC, Westphal W, Butti ML, Lomellas A, Kopp P: Thyroid stimulating hormone (TSH) regulates pendrin membrane abundance and enhances iodide efflux in thyroid cells. Edocrinology 2011; in press.
35. Dohan O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N: The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance. Endocr Rev 2003;24:48-77. (Pubitemid 36223279)
36. Riedel C, Levy O, Carrasco N: Posttranscriptional regulation of the sodium/iodide symporter by thyrotropin. J Biol Chem 2001;276:21458-21463.
37. Kogai T, Endo T, Saito T, Miyazaki A, Kawaguchi A, Onaya T: Regulation by thyroid-stimulating hormone of sodium/iodide symporter gene expression and protein levels in FRTL-5 cells. Endocrinology 1997;138:2227-2232. (Pubitemid 27215219)
38. Muscella A, Marsigliante S, Verri T, Urso L, Dimitri C, Botta G, Paulmichl M, Beck-Peccoz P, Fugazzola L, Storelli C: PKCepsilon-dependent cytosol-to-membrane translocation of pendrin in rat thyroid PC Cl3 cells. J Cell Physiol 2008;217:103-112.
39. Azroyan A, Laghmani K, Crambert G, Mordasini D, Doucet A, Edwards A: Regulation of pendrin by pH: dependence on glycosylation. Biochem J 2011;434:61-72.