The role of bestrophin-1 in intracellular Ca2+ signaling

Advances in Experimental Medicine and Biology

Volumn 801, Issue , 2014, Pages 113-119

  Strauß, Olaf ^a,b   Müller, Claudia ^b   Reichhart, Nadine ^a,b   Tamm, Ernst R ^c   Gomez, Nestor Mas ^b,d  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Bestrophin 1; Ca2+ signaling; Orai 1; Stim 1; Store operated Ca2+ entry

Indexed keywords

BESTROPHIN 1; CALCIUM; CALCIUM CHANNEL; CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL 1; PROTEIN; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE; SMALL INTERFERING RNA; UNCLASSIFIED DRUG; BEST1 PROTEIN, HUMAN; CHLORIDE CHANNEL; EYE PROTEIN; ION CHANNEL; VMD2 PROTEIN, MOUSE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BASOLATERAL MEMBRANE; BEST1 GENE; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CENTRIFUGATION; CONTROLLED STUDY; EXTRACELLULAR CALCIUM; GENE; GENE FUNCTION; GENE MUTATION; GENE PRODUCT; IMMUNOHISTOCHEMISTRY; MACULAR DEGENERATION; MOUSE; NONHUMAN; PHAGOCYTOSIS; PHOTORECEPTOR OUTER SEGMENT; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RETINA DEGENERATION; TRANSMISSION ELECTRON MICROSCOPY; VITELLIFORM MACULAR DEGENERATION; ANIMAL; CALCIUM SIGNALING; GENETICS; HUMAN; METABOLISM; PHYSIOLOGY; RETINA MACULA VITELLIFORM DEGENERATION; REVIEW;

SUS;

ANIMALS; CALCIUM; CALCIUM SIGNALING; CHLORIDE CHANNELS; EYE PROTEINS; HUMANS; ION CHANNELS; MICE; VITELLIFORM MACULAR DYSTROPHY;

EID: 84904795775     PISSN: 00652598     EISSN: 22148019     Source Type: Book Series    
DOI: 10.1007/978-1-4614-3209-8_15     Document Type: Article

References (37)

1. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T et al (1998) Identification of the gene responsible for best macular dystrophy. Nat Genet 19(3):241-247
2. Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BH (1998) Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet 7(9):1517-1525
3. Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT (2008) Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev 88(2):639-672
4. Marmorstein AD, Cross HE, Peachey NS (2009) Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res 28(3):206-226
5. Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI (2009) The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res 28(3):187-205
6. Xiao Q, Hartzell HC, Yu K (2010) Bestrophins and retinopathies. Pflugers Arch 460(2):559-569
7. Planells-Cases R, Jentsch TJ (2009) Chloride channelopathies. Biochim Biophys Acta 1792(3):173-189
8. White K, Marquardt A, Weber BH (2000) VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat 15(4):301-308
9. Milenkovic VM, Rivera A, Horling F, Weber BH (2007) Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. J Biol Chem 282(2):1313-1321
10. Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K (2000) Bestrophin the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci USA 97(23):12758-12763
11. 2+ stores in the ER. Pflugers Arch 460(1):163-175
12. (2+) channel beta-subunit. Exp Eye Res 91(5):630-639
13. Sun H, Tsunenari T, Yau KW, Nathans J (2002) The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci USA 99(6):4008-4013
14. Hartzell C, Putzier I, Arreola J (2005) Calcium-activated chloride channels. Annu Rev Physiol 67:719-758
15. Fischmeister R, Hartzell HC (2005) Volume sensitivity of the bestrophin family of chloride channels. J Physiol 562(Pt 2):477-491
16. Xiao Q, Yu K, Cui YY, Hartzell HC (2009) Dysregulation of human bestrophin-1 by ceramide- induced dephosphorylation. J Physiol 587(Pt 18):4379-4391
17. Marchant D, Yu K, Bigot K, Roche O, Germain A, Bonneau D et al (2007) New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. J Med Genet 44(3):e70
18. Yu K, Cui Y, Hartzell HC (2006) The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. Invest Ophthalmol Vis Sci 47(11):4956-4961
19. - channels are highly permeable to HCO3-. Am J Physiol Cell Physiol 294(6):C1371-C1377
20. Chien LT, Hartzell HC (2008) Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity. J Gen Physiol 132(5):537-546
21. 2+ channels in retinal pigment epithelial cells regulate vascular endothelial growth factor secretion rates in health and disease. Mol Vis 13:443-456
22. 2+ channel β-subunits: identification of new binding domains on the bestrophin- 1 C-terminus. PLoS One; in revision
23. 2+ channels via src-homology-binding domains. J Neurosci 28(22):5660-5670
24. Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E et al (2008) Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 82(1):19-31
25. Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N et al (2009) Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet 85(5):581-592
26. Milenkovic VM, Roehrl E, Weber BH, Strauss O (2011) Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance. J Cell Sci (submitted)
27. Marmorstein LY, Wu J, McLaughlin P, Yocom J, Karl MO, Neussert R et al (2006) The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol 127(5):577-589
28. 2+ signaling in a mouse model of Best disease. Hum Mol Genet 19(6):1108-1118
29. 2+-dependent ion channels TMEM16A and SK4 possibly by acting as a counterion channel. Pflugers Arch 459(3):485-497
30. Putney JW Jr (2005) Capacitative calcium entry: sensing the calcium stores. J Cell Biol 169(3):381-382
31. Mas Gomez N, Tamm ER, Strauss O (2012) Involvement of bestrophin-1 in store-operated calcium entry in porcine retinal pigment epithelium. Pflugers Arch (Dec.4, Epub ahead of print)
32. (-) channels with different functions. Cell Calcium 46(4):233-241
33. Strauss O (2005) Retinal pigment epithelium in visual function. Physiol Rev 85(3):845-881
34. Wimmers S, Karl MO, Strauss O (2007) Ion channels in the RPE. Prog Retin Eye Res 26(3):263-301
35. Maminishkis A, Jalickee S, Blaug SA, Rymer J, Yerxa BR, Peterson WM et al (2002) The P2Y(2) receptor agonist INS37217 stimulates RPE fluid transport in vitro and retinal reattachment in rat. Invest Ophthalmol Vis Sci 43(11):3555-3566
36. Mitchell CH (2001) Release of ATP by a human retinal pigment epithelial cell line: potential for autocrine stimulation through subretinal space. J Physiol 534(Pt 1):193-202
37. Peterson WM, Meggyesy C, Yu K, Miller SS (1997) Extracellular ATP activates calcium signaling, ion, and fluid transport in retinal pigment epithelium. J Neurosci 17(7):2324-233715