Molecular characterisation of the defective α1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68lle)

European Journal of Human Genetics

Volumn 7, Issue 3, 1999, Pages 321-331

  Poller, Wolfgang ^a   Merklein, Frank ^b   Schneider Rasp, Sonja ^b   Haack, Anja ^b   Fechner, Henry ^b   Wang, Haili ^b   Anagnostopoulos, Ioannis ^b   Weidinger, Sebastian ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b NONE

Author keywords

1 antitrypsin deficiency; Adenovirus mediated gene transfer; Intracellular protein transport deficiency; Pathogenetic modelling of human disease

Indexed keywords

ALPHA 1 ANTITRYPSIN; ISOLEUCINE; LEUCINE; PROLINE; SERINE; SERINE PROTEINASE INHIBITOR; THREONINE;

ADENOVIRUS; ADULT; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CASE REPORT; CHRONIC OBSTRUCTIVE LUNG DISEASE; ENDOPLASMIC RETICULUM; GENETIC RECOMBINATION; HUMAN; INTRACELLULAR TRANSPORT; LIVER DISEASE; MALE; MOLECULAR GENETICS; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION;

ADULT; ALLELES; ALPHA 1-ANTITRYPSIN; ANIMALS; CHILD; FEMALE; GENE EXPRESSION; HUMANS; ISOLEUCINE; LEUCINE; MALE; MICE; PEDIGREE; PROLINE; SERINE; SERINE PROTEINASE INHIBITORS; THREONINE;

EID: 0032952611     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200304     Document Type: Article

References (39)

1. Eriksson S: Pulmonary emphysema and a1-antitrypsin deficiency. Acta Med Scand 1964; 175: 197-205.
2. Perlmutter D, May L, Sehgal P: Interferon β2/interleukin 6 modulates synthesis of a1-antitrypsin in human mononuclear phagocytes and in human hepatoma cells. J Clin Invest 1989; 84: 138-144.
3. Perlino E, Cortese R, Ciliberto G: The human a1-antitrypsin gene is transcribed from two different promotors in macrophages and hepatocytes. EMBO J 1987; 6: 2767-2771.
4. Gadek J, Zimmerman R, Fells G, Rennard S, Crystal R: Anti-elastases of the human alveolar structures: implications for the protease-antiprotease theory of emphysema. J Clin Invest 1981; 68: 889-898.
5. Wewers M, Casolaro M, Sellers S, Swayze S, McPhaul K, Crystal R: Replacement therapy for a1-antitrypsin deficiency associated with emphysema. N Engl J Med 1987; 316: 1055-1062.
6. Eriksson S: Discovery of a1-antitrypsin deficiency. Lung 1990; 168 (supplement): 523-529.
7. Crystal R: a1-antitrypsin deficiency, emphysema, and liver disease. J Clin Invest 1990; 85: 1343-1352.
8. Larsson C: Natural history and life expectancy in severe a1-antitrypsin deficiency, PI Z. Acta Med Scand 1978; 204: 345-351.
9. Brantly M, Paul L, Miller B, Falk R, Wu M, Crystal R: Clinical features and history of the destructive lung disease associated with a1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis 1988; 138: 327-336.
10. Sharp H, Bridges R, Krivit W, Freier E: Cirrhosis associated with α1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Invest 1969; 73: 934-939.
11. Sveger T: Liver disease in a1-antitrypsin deficiency detected by screening of 200 000 infants. N Engl J Med 1976; 294: 1316-1321.
12. Eriksson S, Carlson J, Veley R: Risk of cirrhosis and primary livery cancer in a1-antitrypsin deficiency. N Engl J Med 1986; 314: 736-739.
13. Cox D, Billingsley G: Rare deficiency alleles of a1-antitrypsin: electrophoretic variation and DNA haplo-types. Am J Hum Genet 1989; 44: 844-854.
14. Nukiwa T, Satoh K, Brantly M et al: Identification of a second mutation in the protein coding sequence of the Z-type a1-antitrypsin gene. J Biol Chem 1986; 261: 15989-15994.
15. Mornex J, Chytil-Weir A, Martinet Y, Courtney M, LeCocq J, Crystal R: Expression of the a1-antitrypsin gene in mononuclear phagocytes of normal and a1-antitrypsin deficient individuals. J Clin Invest 1986; 77: 1952-1961.
16. Hofker M, Nukiwa T, vanPaassen H et al: A Pro to Leu substitution in codon 369 of the a1-antitrypsin deficiency variant PI Mheerlen. Hum Genet 1989; 81: 264-268.
17. Curiel D, Holmes M, Okayama H et al: Molecular basis of the liver and lung disease associated with the alphal-antitrypsin deficiency allele M(malton). J Biol Chem 1989; 264 (23): 13938-13945.
18. Lieberman J, Gaidulis L, Kloty S: A new deficient variant of a1-antitrypsin (M duarte). Inability to detect the heterozygous state by a1-antitrypsin phenotyping. Am Rev Respir Dis 1976; 114: 31-36.
19. Satoh K, Nukiwa T, Brantly M et al: Emphysema associated with complete absence of a1-antitrypsin caused by a stop codon in an a1-antitrypsin coding exon. Am J Hum Genet 1988; 42: 77-83.
20. Nukiwa T, Takahashi H, Brantly M, Courtney M, Crystal R: α1-antitrypsin Null granite falls, a non-expressing α1-antitrypsin gene associated with a frameshift to stop mutation in a coding exon. J Biol Chem 1987; 262: 11999-12004.
21. Wu Y, Whitman I, Molmenti E, Moore K, Hippenmeyer P, Perlmutter D: A lag in intracellular degradation of mutant α1-antitrypsin correlates with the liver disease phenotype in homozygous PI ZZ α1-antitrypsin deficiency. Proc Natl Acad Sci USA 1994; 91: 9014-9018.
22. Teckman J, Qu D, Perlmutter D: Molecular pathogenesis of liver disease in α1-antitrypsin deficiency. Hepatology 1996; 24 (6): 1504-1516.
23. Perlmutter D, Schlesinger M, Pierce J, Punsal P, Schwarty A: Synthesis of stress proteins is increased in individuals with homozygous PI ZZ a1-antitrypsin deficiency and liver disease. J Clin Invest 1989; 84: 1555-1561.
24. Lomas D, Evans D, Finch J, Carrell R: The mechanism of Z alphal-antitrypsin accumulation in the liver. Nature 1992; 357: 605-607.
25. Faber J-P, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Olek K: Sequence data of fifteen new α1-antitrypsin variants including two PI*Q0 and one deficient PI*M allele. Am J Hum Genet 1994; 55: 1113-1121.
26. Herz J, Gerard R: Adenovirus-mediated transfer of the low-density lipoprotein receptor gene acutely accelerates cholesterol clearance in normal mice. Proc Natl Acad Sci USA 1993; 90: 2812-2816.
27. Ishibashi S, Brown M, Goldstein J, Gerard R, Hammer R, Herz J: Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery. J Clin Invest 1993; 92: 883-893.
28. Poller W, Schneider-Rasp S, Liebert U et al: Stabilization of transgene expression by incorporation of E3 region genes into an adenoviral factor IX vector and by transient anti-CD4 treatment of the host. Gene Ther 1996; 3 (6): 521-530.
29. - channels co-expressed with cGMP-dependent protein kinase type II, but not type Iβ. J Biol Chem 1997; 272 (9): 4195-4200.
30. Gambaryan S, Wagner C, Smolenski A et al: cAMP-stimulated renin release from rat isolated perfused kidney, microdissected glomeruli, and isolated juxtaglomerular cells is inhibited by endogenous or overexpressed cGMP-dependent protein kinases. Proc Natl Acad Sci USA 1998; 95: 9003-9008.
31. Poller W, Faber J-P, Olek K: Highly variable clinical course in severe α1-antitrypsin deficiency - Use of polymerase chain reaction for the detection of rare deficiency alleles. Klin Wochenschr 1990; 68: 857-863.
32. Weidinger S: Reliable phenotyping of a1-antitrypsin by hybrid isoelectric focusing in an ultranarrow pH gradient. Electrophoresis 1992; 13: 234-239.
33. Faber J-P, Weidinger S, Olek K: Sequence data of the rare deficient a1-antitrypsin variant PIZ augsburg. Am J Hum Genet 1990; 46: 1158-1162.
34. Faber J-P, Poller W, Olek K et al: The molecular basis of α1-antichymotrypsin deficiency in a heterozygote with liver and lung disease. J Hepatol 1993; 18: 313-321.
35. Ho S, Hunt H, Horton R, Pullen J, Pease L: Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989; 77: 51-59.
36. Fechner H, Schlame M, Guthmann F, Stevens P, Rüstow B: α- and δ-tocopherol induce expression of hepatic α-tocopherol-transfer-protein mRNA. Biochem J 1998; 331: 577-581.
37. Cordell J, Falini B, Erber W et al: Immunoenzymatic labeling of monoclonal antibodies using immune complexes of alkaline phosphatase and monoclonal anti-alkaline phosphatase (APAAP complexes). J Histochem Cytochem 1984; 32: 219.
38. Carlson J, Rogers B, Sifers R et al: Accumulation of PiZ alphal-antitrypsin causes liver damage in transgenic mice. J Clin Invest 1989; 83: 1183-1190.
39. Curiel D, Vogelmeier C, Hubbard R, Stier L, Crystal R: Molecular basis of alphal-antitrypsin deficiency and emphysema associated with the α1-antitrypsin Mmineral springs allele. Mol Cell Biol 1990; 10 (1): 47-56.