Comparison of the properties of rare variants of α1- proteinase inhibitor expressed in COS-1 cells and assessment of their potential as risk factors in human disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1740, Issue 3, 2005, Pages 390-402

  Ray, Shahla ^a   Mickleborough, Timothy D ^a   Brown, Jerry L ^b  

^a INDIANA UNIVERSITY   (United States)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

1 proteinase inhibitor; Binding activity; Elastase; Point mutants; Secretion; Stability

Indexed keywords

ALPHA 1 ANTITRYPSIN; COMPLEMENTARY DNA;

ALLELE; ANIMAL CELL; ARTICLE; CELL STRAIN COS1; CELLULAR DISTRIBUTION; COMPARATIVE STUDY; CONTROLLED STUDY; DEGRADATION KINETICS; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; LUNG DISEASE; MUTATION RATE; MUTATIONAL ANALYSIS; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; RISK ASSESSMENT; SITE DIRECTED MUTAGENESIS; STATISTICAL SIGNIFICANCE;

ALPHA 1-ANTITRYPSIN; AMINO ACID SUBSTITUTION; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC PREDISPOSITION TO DISEASE; IMMUNOPRECIPITATION; LUNG DISEASES; MUTAGENESIS, SITE-DIRECTED; OLIGONUCLEOTIDES; PLASMIDS; POINT MUTATION; TRANSFECTION; VARIATION (GENETICS);

EID: 20444427601     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2005.03.010     Document Type: Article

References (38)

1. J. Travis, and G.S. Salvesen Human plasma proteinase inhibitors Annu. Rev. Biochem. 52 1983 655 709
2. M.K. Fagerhol, D.W. Cox, The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin, Adv. Hum. Genet. 11 (1981) 1-62, 371-372.
3. C.A. Blank, and M. Brantly Clinical features and molecular characteristics of alpha 1-antitrypsin deficiency Ann. Allergy 72 1994 105 120 (quiz 120-102)
4. M. Brantly, T. Nukiwa, and R.G. Crystal Molecular basis of alpha-1-antitrypsin deficiency Am. J. Med. 84 1988 13 31
5. R.W. Carrell, J.O. Jeppsson, C.B. Laurell, S.O. Brennan, M.C. Owen, L. Vaughan, and D.R. Boswell Structure and variation of human alpha 1-antitrypsin Nature 298 1982 329 334
6. A.A. McCracken, K.B. Kruse, and J.L. Brown Molecular basis for defective secretion of the Z variant of human alpha-1-proteinase inhibitor: secretion of variants having altered potential for salt bridge formation between amino acids 290 and 342 Mol. Cell. Biol. 9 1989 1406 1414
7. R.N. Sifers, M.J. Finegold, and S.L. Woo Alpha-1-antitrypsin deficiency: accumulation or degradation of mutant variants within the hepatic endoplasmic reticulum Am. J. Respir. Cell Mol. Biol. 1 1989 341 345
8. E.D. Werner, J.L. Brodsky, and A.A. McCracken Proteasome-dependent endoplasmic reticulum-associated protein degradation: an unconventional route to a familiar fate Proc. Natl. Acad. Sci. U. S. A. 93 1996 13797 13801
9. D. Qu, J.H. Teckman, S. Omura, and D.H. Perlmutter Degradation of a mutant secretory protein, alpha1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity J. Biol. Chem. 271 1996 22791 22795
10. M. de Virgilio, H. Weninger, and N.E. Ivessa Ubiquitination is required for the retro-translocation of a short-lived luminal endoplasmic reticulum glycoprotein to the cytosol for degradation by the proteasome J. Biol. Chem. 273 1998 9734 9743
11. K.S. Graham, A. Le, and R.N. Sifers Accumulation of the insoluble PiZ variant of human alpha 1-antitrypsin within the hepatic endoplasmic reticulum does not elevate the steady-state level of grp78/BiP J. Biol. Chem. 265 1990 20463 20468
12. D.H. Perlmutter Liver disease associated with alpha 1-antitrypsin deficiency Prog. Liver Dis. 11 1993 139 165
13. Y. Wu, I. Whitman, E. Molmenti, K. Moore, P. Hippenmeyer, and D.H. Perlmutter A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency Proc. Natl. Acad. Sci. U. S. A. 91 1994 9014 9018
14. F. Ogushi, G.A. Fells, R.C. Hubbard, S.D. Straus, and R.G. Crystal Z-type alpha 1-antitrypsin is less competent than M1-type alpha 1-antitrypsin as an inhibitor of neutrophil elastase J. Clin. Invest. 80 1987 1366 1374
15. J.O. Jeppsson Amino acid substitution Glu leads to Lys alpha1-antitrypsin PiZ FEBS Lett. 65 1976 195 197
16. A. Graham, N.A. Kalsheker, C.R. Newton, F.J. Bamforth, S.J. Powell, and A.F. Markham Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256-Val); PiMmalton (Phe51-deletion) and PiI (Arg39-Cys) Hum. Genet. 84 1989 55 58
17. H. Takahashi, T. Nukiwa, K. Satoh, F. Ogushi, M. Brantly, G. Fells, L. Stier, M. Courtney, and R.G. Crystal Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida J. Biol. Chem. 263 1988 15528 15534
18. K. Seyama, T. Nukiwa, K. Takabe, H. Takahashi, K. Miyake, and S. Kira Siiyama (serine 53 (TCC) to phenylalanine 53 (TTC)). A new alpha 1-antitrypsin-deficient variant with mutation on a predicted conserved residue of the serpin backbone J. Biol. Chem. 266 1991 12627 12632
19. D.T. Curiel, C. Vogelmeier, R.C. Hubbard, L.E. Stier, and R.G. Crystal Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele Mol. Cell. Biol. 10 1990 47 56
20. G.C. Frazier, M.A. Siewertsen, M.H. Hofker, M.G. Brubacher, and D.W. Cox A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure J. Clin. Invest. 86 1990 1878 1884
21. M.D. Holmes, M.L. Brantly, and R.G. Crystal Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles Am. Rev. Respir. Dis. 142 1990 1185 1192
22. M.D. Holmes, M.L. Brantly, G.A. Fells, and R.G. Crystal Alpha 1-antitrypsin Wbethesda: Molecular basis of an unusual alpha 1-antitrypsin deficiency variant Biochem. Biophys. Res. Commun. 170 1990 1013 1020
23. M.H. Hofker, T. Nukiwa, H.M. van Paassen, M. Nelen, J.A. Kramps, E.C. Klasen, R.R. Frants, and R.G. Crystal A Pro-Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen Hum. Genet. 81 1989 264 268
24. D.H. Jones, and B.H. Howard A rapid method for recombination and site-specific mutagenesis by placing homologous ends on DNA using polymerase chain reaction Biotechniques 10 1991 62 66
25. Z. Du, D.A. Regier, and R.C. Desrosiers Improved recombinant PCR mutagenesis procedure that uses alkaline-denatured plasmid template Biotechniques 18 1995 376 378
26. F.M. Asubel, R. Brent, R.E. Kingston, D.D. Moore, J.G. Seidman, J.A. Smith, and K. Struhl Current Protocols in Molecular Biology 1990 Green Publishing/Wiley-Interscience New York
27. R.M. Brodbeck, and J.L. Brown Study of the roles of proline 391 and a highly conserved sequence in the carboxyl-terminal region of members of the serpin family in the secretion of alpha 1-proteinase inhibitor J. Biol. Chem. 269 1994 17252 17256
28. I. Braakman, H. Hoover-Litty, K.R. Wagner, and A. Helenius Folding of influenza hemagglutinin in the endoplasmic reticulum J. Cell Biol. 114 1991 401 411
29. R.M. Brodbeck, T. Samandari, and J.L. Brown Effects of mutations that alter the Glu264-Lys387 salt bridge on the secretion of alpha-1-proteinase inhibitor J. Biol. Chem. 268 1993 6771 6776
30. D.P. Goldenberg Analysis of protein conformation by gel electrophoresis T.E. Creighton Protein Structure: A Practical Approach 1989 IRL Press New York 225 250
31. U.K. Laemmli Cleavage of structural proteins during the assembly of the head of bacteriophage T4 Nature 227 1970 680 685
32. A.E. Mast, J.J. Enghild, and G. Salvesen Conformation of the reactive site loop of alpha 1-proteinase inhibitor probed by limited proteolysis Biochemistry 31 1992 2720 2728
33. S. Gallagher, S.E. Winston, S.A. Fuller, and J.G.R. Hurrell Immunoblotting and immunodetection F.A. Ausubel R. Brent R.E. Kingston D.D. Moore J.G. Siedman J.A. Smith K. Struhl Current Protocols in Molecular Biology 1988 John Wiley and Sons New York 10.18.11 10.18.21
34. G. Ciliberto, L. Dente, and R. Cortese Cell-specific expression of a transfected human alpha 1-antitrypsin gene Cell 41 1985 531 540
35. F.J. Bamforth, and N.A. Kalsheker Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity J. Med. Genet. 25 1988 83 87
36. X. Baur, and K. Bencze Study of familial alpha-1-proteinase inhibitor deficiency including a rare proteinase inhibitor phenotype (IZ): I. Alpha-1-phenotyping and clinical investigations Respiration 51 1987 188 195
37. R.G. Crystal Alpha 1-antitrypsin deficiency, emphysema, and liver disease. Genetic basis and strategies for therapy J. Clin. Invest. 85 1990 1343 1352
38. D.A. Lomas, J.T. Finch, K. Seyama, T. Nukiwa, and R.W. Carrell Alpha 1-antitrypsin Siiyama (Ser53-(Phe). Further evidence for intracellular loop-sheet polymerization J. Biol. Chem. 268 1993 15333 15335