α1-Antitrypsin null alleles: Evidence for the recurrence of the L353fsX376 mutation and a novel G→A transition in position +1 of intron IC affecting normal mRNA splicing

Clinical Genetics

Volumn 62, Issue 2, 2002, Pages 175-180

  Seixas, S ^a   Mendonca C ^b   Costa, F ^c   Rocha, Jorge ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b Hospital dos Covoes   (Portugal)

^c Hospital de Sao Joao de Deus   (Portugal)

Author keywords

1 antitrypsin null alleles; Novel RNA splicing mutation; Recurrent mutation

Indexed keywords

ALPHA 1 ANTITRYPSIN; GENOMIC DNA; MESSENGER RNA; NUCLEOTIDE;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; CASE REPORT; CHROMOSOME BANDING PATTERN; CONTROLLED STUDY; EXON; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTRON; ISOELECTRIC FOCUSING; LIVER; LUNG EMPHYSEMA; MALE; MONONUCLEAR PHAGOCYTE; NULL ALLELE; PATHOGENESIS; PORTUGAL; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RNA SPLICING; SHORT SURVEY; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; EMPHYSEMA; GENETICS; MUTATION;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; EMPHYSEMA; HUMANS; INTRONS; MUTATION; PORTUGAL; RNA SPLICING;

EID: 0036705769     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620212.x     Document Type: Short Survey

References (24)

1. Long GL, Chandra T, Woo SLC, Davie EW, Kurachi K. Complete sequence of the cDNA for human α1-antitrypsin and the gene for the S variant. Biochemistry 1984: 23: 4828-4837.
2. Perlino E, Cortese R, Ciliberto G. The human α1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes. EMBO J 1987: 6: 2767-2771.
3. Crystal RG. The α1-antitrypsin gene and its deficiency states. Trends Genet 1989: 5: 411-417.
4. Perlmutter DH, Cole FS, Killbridge P, Rossing TH, Colten HR. Expression of the alpha-1-proteinase inhibitor gene in human monocytes and macrophages. Proc Natl Acad Sci USA 1985: 82: 795-799.
5. du Bois RM, Bernaudin JF, Paakko P et al. Human neutrophils express the alpha 1-antitrypsin gene and produce alpha 1-antitrypsin. Blood 1991: 77: 2724-2730.
6. Hafeez W, Ciliberto G, Perlmutter DH. Constitutive and modulated expression of the human α1-antitrypsin gene. Different transcriptional initiation sites used in three different cell types. J Clin Invest 1992: 89: 1214-1222.
7. Blanco I, Fernández E, Bustillo EF. Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys. Clin Genet 2001: 60: 31-41.
8. Brantly M. Alpha-1-antitrypsin genotypes and phenotypes. In: Crystal RG, ed. Alpha-1-antitrypsin deficiency: biology, pathogenesis, clinical manifestations and therapy, Vol. 88. New York: Marcel Dekker Inc., 1996: 45-59.
9. Crystal RG. α1-Antitrypsin deficiency, emphysema and liver disease: genetic basis and strategies for therapy. J Clin Invest 1990: 85: 1343-1352.
10. Lee JH, Brantly M. Molecular mechanisms of alpha-1-antitrypsin null alleles. Respir Med 2000: 94 (Suppl. C): S7-S11.
11. Laubach VE, Ryan WJ, Brantly M. Characterization of a human α1-antitrypsin null allele involving aberrant mRNA splicing. Hum Mol Genet 1993: 2: 1001-1005.
12. mattawa gene. An insertion mutation rendering the α1-antitrypsin gene incapable of producing α1-antitrypsin. J Clin Invest 1989: 83: 1144-1152.
13. Rocha J, Pinto D, Santos MT et al. Analysis of the allelic diversity of a (CA)n repeat polymorphism among α1-antitrypsin gene products from northern Portugal. Hum Genet 1997: 99: 194-198.
14. Dry PJ. Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site. Hum Genet 1991: 87: 742-744.
15. Miller SA, Dykes DD, Polesky HF. A simple procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
16. Graham A, Kalsheker NA, Bamforth FJ, Newton CR, Markham AF. Molecular characterization of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Nullnewport (Gly115→Ser) and (Pi) Zwrexham (Ser19→Leu). Hum Genet 1990: 85: 537-540.
17. Seixas S, Garcia O, Amorim A, Rocha J. A novel alpha-1-antitrypsin R281del variant found in a population sample from the Basque Country. Hum Mutat 2000: 15: 121-122.
18. Rollini P, Fournier REK. Differential regulation of gene activity and chromatin structure within the human serpin gene cluster at 14q32.1 in macrophage microcell hybrids. Nucleic Acids Res 2000: 28: 1767-1777.
19. Cox DW, Levison H. Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes). Am Rev Respir Dis 1988: 137: 371-375.
20. Krawczack M, Reitsma PH, Cooper DN. The mutational demography of protein C deficiency. Hum Genet 1995: 96: 142-146.
21. Cooper DN, Krawczack M, Antonarakis SE. The nature and mechanisms of human gene mutation. In: Scriver CH, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease, Vol. 1. New York: McGraw-Hill, 1995: 259-291.
22. Fraizer GC, Siewersten M, Harrold TR, Cox DW. Deletion/frameshift mutation in the alpha 1-antitrypsin null allele, PI*Q0bolton. Hum Genet 1989: 83: 377-382.
23. Faber J-P, Poller W, Weidinger S et al. Identification and DNA sequence analysis of 15 new α1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet 1994: 55: 1113-1121.
24. Brantly M, Lee JH, Hildesheim J et al. α1-Antitrypsin gene mutation hot spot associated with the formation of a retained and degraded null variant. Am J Respir Cell Mol Biol 1997: 16: 225-231.