Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants

Annals of the New York Academy of Sciences

Volumn 986, Issue , 2003, Pages 453-460

  Shull, Gary E ^a   Okunade, Gbolahan ^a   Liu, Lynne H ^a   Kozel, Peter ^a   Periasamy, Muthu ^b   Lorenz, John N ^a   Prasad, Vikram ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

ATP2A1; ATP2A2; ATP2A3; ATP2B1; ATP2B2; ATP2B3; ATP2B4; ATP2C1; Embryonic stem cells; Gene targeting

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); ISOPROTEIN;

BALANCE DISORDER; CALCIUM CELL LEVEL; CALCIUM SIGNALING; CANCER INCIDENCE; CARDIOVASCULAR RISK; CELL FUNCTION; CELL MEMBRANE; CONFERENCE PAPER; DARIER DISEASE; GENE LOSS; GENE TARGETING; GENETIC ANALYSIS; HAILEY HAILEY DISEASE; HAIR CELL; HEARING IMPAIRMENT; HEART PERFORMANCE; HETEROZYGOTE; HUMAN; INNER EAR; MUSCLE RELAXATION; NONHUMAN; NULL ALLELE; PANCREAS ISLET BETA CELL; PHENOTYPE; SARCOPLASMIC RETICULUM; SKELETAL MUSCLE; SQUAMOUS CELL CARCINOMA; VASCULAR SMOOTH MUSCLE;

EID: 0038239926     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2003.tb07229.x     Document Type: Conference Paper

References (52)

1. GUNTESKI-HAMBLIN, A., D.M. CLARKE & G.E. SHULL. 1992. Molecular cloning and tissue distribution of alternatively spliced mRNAs encoding possible mammalian homologs of the yeast secretory pathway calcium pump. Biochemistry 31: 7600-7608.
2. 2+-ATPase defective in Hailey-Hailey disease. J. Biol. Chem. 277: 6422-6427.
3. 2+)-dependent ATPase from rabbit muscle sarcoplasmic reticulum deduced from its cDNA sequence. Nature 316: 696-700.
4. 2+-ATPase genes: homologies and mechanistic implications of deduced amino acid sequences. Cell 44: 597-607.
5. 2+ pump expressed in brain, kidney, and stomach is encoded by an alternative transcript of the slow-twitch muscle sarcoplasmic reticulum Ca-ATPase gene. J. Biol. Chem. 263: 15032-15040.
6. 2+-ATPase gene. J. Biol. Chem. 263: 15024-15031.
7. 2+ pump. J. Biol. Chem. 264: 18561-18568.
8. 2+-transporting ATPase from rat brain. J. Biol. Chem. 263: 8646-8657.
9. 2+-transporting ATPase that is expressed predominantly in brain and skeletal muscle. J. Biol. Chem. 264: 18569-18576.
10. 2+ pump. J. Biol. Chem. 263: 14152-14159.
11. STREHLER, E.E., P. JAMES, et al. 1990. Peptide sequence analysis and molecular cloning reveal two calcium pump isoforms in the human erythrocyte membrane. J. Biol. Chem. 265: 2835-2842.
12. CARAFOLI, E. 1994. Biogenesis: plasma membrane calcium ATPase - 15 years of work on the purified enzyme. FASEB J. 13: 993-1002.
13. 2+-ATPases. J. Biol. Chem. 272: 28815-28818.
14. 2+ ATPase family. Cell 58: 133-145.
15. 2+-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution. Mol. Biol. Cell 3: 633-654.
16. 2+-ATPase in yeast Golgi, has properties distinct from sarco/endoplasmic reticulum and plasma membrane calcium pumps. J. Biol. Chem. 272: 9895-9901.
17. 2+-transporting ATPase. J. Bacteriol. 176: 4430-4436.
18. BAELEN, K.V., J. VANOEVELEN, et al. 2001. The Golgi PMR1 P-type ATPase of Caenorhabditis elegans. J. Biol. Chem. 276: 10683-10691.
19. 2+ required for glycosylation, sorting, and endoplasmic reticulum-associated protein degradation. Mol. Biol. Cell 9: 1149-1162.
20. LAPINSKAS, P.J., K.W. CUNNINGHAM, et al. 1995. Mutations in PMR1 suppress oxidative damage in yeast cells lacking superoxide dismutase. Mol. Cell. Biol. 15: 1382-1388.
21. ISHIKAWA, K., T. NAGASE, et al. 1998. Prediction of the coding sequences of unidentified human genes: X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 169-176.
22. Hu, Z., J.M. BONIFAS, et al. 2000. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat. Genet. 24: 61-65.
23. HOLST, V.A., K.P. FAIR, et al. 2000. Squamous cell carcinoma arising in Hailey-Hailey disease. J. Am. Acad. Dermatol. 43: 368-371.
24. COCKAYNE, S.E., D.M. RASSL & S.E. THOMAS. 2000. Squamous cell carcinoma arising in Hailey-Hailey disease of the vulva. Br. J. Dermatol. 142: 540-542.
25. 2+ pump. J. Biol. Chem. 276: 26737-26740.
26. 2+-ATPase isoform 2. J. Biol. Chem. 273: 18693-18696.
27. FURUTA, H., L. LUO, et al. 1998. Evidence for differential regulation of calcium by outer versus inner hair cells: plasma membrane Ca-ATPase gene expression. Hear. Res. 123: 10-26.
28. 2+ from hair cell stereocilia. J. Neurosci. 18: 610-624.
29. 2+-ATPase gene cause deafness in deaf waddler mice. Nat. Genet. 19: 390-394.
30. 2+ ATPase gene causes deafness in Wriggle Mouse Sagami. Biochem. Biophys. Res. Commun. 261: 773-778.
31. NOBEN-TRAUTH, K., Q.Y. ZHENG, et al. 1997. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics 44: 266-272.
32. DAVIS, R.R., J.K. NEWLANDER, et al. 2001. Genetic basis for susceptibility to noise-induced hearing loss in mice. Hear. Res. 155: 82-90.
33. KOZEL, P.J., R.R. DAVIS, et al. 2002. Deficiency in plasma membrane calcium ATPase isoform 2 increases susceptibility to noise-induced hearing loss in mice. Hear. Res. 164: 231-239.
34. 2+-ATPase, are associated with Brody disease. Nat. Genet. 14: 191-194.
35. 2+ ATPase (SERCA1) and is associated with Brody disease. Hum. Genet. 106: 482-491.
36. 2+ signaling and muscle disease. Eur. J. Biochem. 267: 5291-5297.
37. PERIASAMY, M., T.D. REED, et al. 1999. Impaired cardiac performance in heterozygous mice with a null mutation in the sarco(endo)plasmic reticulum Ca2+-ATPase isoform 2 (SERCA2) gene. J. Biol. Chem. 274: 2556-2562.
38. 2+ ATPase isoforms and their role in muscle physiology and pathology. Ann. N.Y. Acad. Sci. 853: 251-259.
39. 2+ homeostasis and cardiomyocyte function. J. Biol. Chem. 275: 38073-38080.
40. 2+-ATPase isoform SERCA2a by the nonmuscle SERCA2b homologue causes mild concentric hypertrophy and impairs contraction-relaxation of the heart. Circ. Res. 89: 838-846.
41. +/- mice. EMBO J. 20: 2680-2689.
42. 2+ pump, cause Darier disease. Nat. Genet. 21: 271-277.
43. SAKUNTABHAI, A., S. BURGE, et al. 1999. Spectrum of novel ATP2A2 mutations in patients with Darier's disease. Hum. Mol. Genet. 8: 1611-1619.
44. MUNRO, C.S. 1992. The phenotype of Darier's disease: penetrance and expressivity in adults and children. Br. J. Dermatol. 127: 126-130.
45. BURCE, S. 1994. Darier's disease - the clinical features and pathogenesis. Clin. Exp. Dermatol. 19: 193-205.
46. TAVADIA, S., R.C. TAIT, et al. 2001. Platelet and cardiac function in Darier's disease. Clin. Exp. Dermatol. 26: 696-699.
47. WUYTACK, F., L. DODE, et al. 1995. The SERCA3-type of organellar Ca pumps. Biosci. Rep. 15: 299-306.
48. 2+-ATPase isoform 3. J. Biol. Chem. 272: 30538-30545.
49. KAO, J., C.N. FORTNER, et al. 1999. Ablation of the SERCA3 gene alters epithelium-dependent relaxation in mouse tracheal smooth muscle. Am. J. Physiol. 277: 264-270.
50. 2+ homeostasis. Diabetes. In press.
51. 2+-transport ATPase 3 gene (SERCA3) in Caucasian type II diabetic patients (UK prospective diabetes study 48). Diabetologia 42: 1240-1243.
52. 2+ ATPases. J. Cell Biol. 124: 351-363.