Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

Journal of Translational Medicine

Volumn 13, Issue 1, 2015, Pages

  Matamala, Nerea ^a   Martínez, Maria Teresa ^b   Lara, Beatriz ^c   Pérez, Laura ^a   Vázquez, Irene ^a   Jimenez, Azucena ^a   Barquín, Miguel ^a   Ferrarotti, Ilaria ^d   Blanco, Ignacio ^e   Janciauskiene, Sabina ^f,g   Martinez Delgado, Beatriz ^a  

^a Ministry of Science and Innovation   (Spain)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^d UNIVERSITY OF PAVIA   (Italy)

^e Alpha1 Antitrypsin Deficiency Spanish Registry   (Spain)

^f HANNOVER MEDICAL SCHOOL   (Germany)

^g Member of the German Center for Lung Research   (Germany)

Author keywords

Alpha 1 antitrypsin; Alpha 1 antitrypsin deficiency; Alternative splicing; Quantitative PCR; SERPINA1; Transcription

Indexed keywords

ALPHA 1 ANTITRYPSIN; ISOPROTEIN; MESSENGER RNA; SERPINA1 PROTEIN, HUMAN;

ALPHA 1 ANTITRYPSIN DEFICIENCY; ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME BLOOD LEVEL; GENE; GENE CONTROL; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENOTYPE; HUMAN; HUMAN TISSUE; NULL ALLELE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; SERPINA1 GENE; ALLELE; ANTIBODY SPECIFICITY; BLOOD; GENETICS; LEUKOCYTE; METABOLISM; MUTATION; REAL TIME POLYMERASE CHAIN REACTION;

ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; ALTERNATIVE SPLICING; HUMANS; LEUKOCYTES; MUTATION; ORGAN SPECIFICITY; PROTEIN ISOFORMS; REAL-TIME POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 84937041597     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/s12967-015-0585-y     Document Type: Article

References (43)

1. Lomas DA, Mahadeva R (2002) Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy. J Clin Invest 110:1585-1590
2. Brantly M, Nukiwa T, Crystal RG (1988) Molecular basis of alpha-1-antitrypsin deficiency. Am J Med 84:13-31
3. Crystal RG (1989) The alpha 1-antitrypsin gene and its deficiency states. Trends Genet 5:411-417
4. Long GL, Chandra T, Woo SL, Davie EW, Kurachi K (1984) Complete sequence of the cDNA for human alpha 1-antitrypsin and the gene for the S variant. Biochemistry 23:4828-4837
5. Billingsley GD, Walter MA, Hammond GL, Cox DW (1993) Physical mapping of four serpin genes: alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome I4q32.1. Am J Hum Genet 52:343-353
6. Ciliberto G, Dente L, Cortese R (1985) Cell-specific expression of a transfected human alpha 1-antitrypsin gene. Cell 41:531-540
7. Kalsheker N, Morley S, Morgan K (2002) Gene regulation of the serine proteinase inhibitors alpha1-antitrypsin and alpha1-antichymotrypsin. Biochem Soc Trans 30:93-98
8. Hafeez W, Ciliberto G, Perlmutter DH (1992) Constitutive and modulated expression of the human alpha 1 antitrypsin gene. Different transcriptional initiation sites used in three different cell types. J Clin Invest 89:1214-1222
9. Perlino E, Cortese R, Ciliberto G (1987) The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes. EMBO J 6:2767-2771
10. Rollini P, Fournier RE (2000) Differential regulation of gene activity and chromatin structure within the human serpin gene cluster at 14q32.1 in macrophage microcell hybrids. Nucleic Acids Res 28:1767-1777
11. Li Y, Zhou L, Twining SS, Sugar J, Yue BY (1998) Involvement of Sp1 elements in the promoter activity of the alpha1-proteinase inhibitor gene. J Biol Chem 273:9959-9965
12. Boskovic G, Twining SS (1998) Local control of alpha1-proteinase inhibitor levels: regulation of alpha1-proteinase inhibitor in the human cornea by growth factors and cytokines. Biochim Biophys Acta 1403:37-46
13. Morgan K, Chappell S, Guetta-Baranes T, Morley S, Kalsheker N (2009) The alpha-1-antitrypsin gene promoter in human A549 lung derived cells, and a novel transcription initiation site. Int J Biochem Cell Biol 41:1157-1164
14. Moore MJ, Proudfoot NJ (2009) Pre-mRNA processing reaches back to transcription and ahead to translation. Cell 136:688-700
15. Hollstein M, Hainaut P (2010) Massively regulated genes: the example of TP53. J Pathol 220:164-173
16. Trapnell C, Williams BA, Pertea G, Mortazavi A, Kwan G, van Baren MJ et al (2010) Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nat Biotechnol 28:511-515
17. Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C et al (2008) Alternative isoform regulation in human tissue transcriptomes. Nature 456:470-476
18. Tazi J, Bakkour N, Stamm S (2009) Alternative splicing and disease. Biochim Biophys Acta 1792:14-26
19. Venables JP (2006) Unbalanced alternative splicing and its significance in cancer. BioEssays 28:378-386
20. Modrek B, Resch A, Grasso C, Lee C (2001) Genome-wide detection of alternative splicing in expressed sequences of human genes. Nucleic Acids Res 29:2850-2859
21. Knoell DL, Ralston DR, Coulter KR, Wewers MD (1998) Alpha 1-antitrypsin and protease complexation is induced by lipopolysaccharide, interleukin- 1beta, and tumor necrosis factor-alpha in monocytes. Am J Respir Crit Care Med 157:246-255
22. de Serres F, Blanco I (2014) Role of alpha-1 antitrypsin in human health and disease. J Intern Med 276:311-335
23. du Bois RM, Bernaudin JF, Paakko P, Hubbard R, Takahashi H, Ferrans V et al (1991) Human neutrophils express the alpha 1-antitrypsin gene and produce alpha 1-antitrypsin. Blood 77:2724-2730
24. Geboes K, Ray MB, Rutgeerts P, Callea F, Desmet VJ, Vantrappen G (1982) Morphological identification of alpha-I-antitrypsin in the human small intestine. Histopathology 6:55-60
25. Perlmutter DH, Cole FS, Kilbridge P, Rossing TH, Colten HR (1985) Expression of the alpha 1-proteinase inhibitor gene in human monocytes and macrophages. Proc Natl Acad Sci USA 82:795-799
26. Salahuddin P (2010) Genetic variants of alpha1-antitrypsin. Curr Protein Pept Sci 11:101-117
27. Mahadeva R, Lomas DA (1998) Genetics and respiratory disease. 2. Alpha 1-antitrypsin deficiency, cirrhosis and emphysema. Thorax 53:501-505
28. Lara B, Martinez MT, Blanco I, Hernández-Moro C, Velasco EA, Ferrarotti I et al (2014) Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid. Respir Res 15:125
29. van't Wout EF, van SA, Savage ND, Stolk J, Hiemstra PS (2012) Alpha1-antitrypsin production by proinflammatory and antiinflammatory macrophages and dendritic cells. Am J Respir Cell Mol Biol 46:607-613
30. Brosseau JP, Lucier JF, Lapointe E, Durand M, Gendron D, Gervais-Bird J et al (2010) High-throughput quantification of splicing isoforms. RNA 16:442-449
31. Connell JW, Rodriguez-Martin T, Gibb GM, Kahn NM, Grierson AJ, Hanger DP et al (2005) Quantitative analysis of tau isoform transcripts in sporadic tauopathies. Brain Res Mol Brain Res 137:104-109
32. Klinck R, Bramard A, Inkel L, Dufresne-Martin G, Gervais-Bird J, Madden R et al (2008) Multiple alternative splicing markers for ovarian cancer. Cancer Res 68:657-663
33. Yasen M, Mizushima H, Mogushi K, Obulhasim G, Miyaguchi K, Inoue K et al (2009) Expression of Aurora B and alternative variant forms in hepatocellular carcinoma and adjacent tissue. Cancer Sci 100:472-480
34. Shulzhenko N, Smirnova AS, Morgun A, Gerbase-DeLima M (2003) Specificity of alternative splice form detection using RT-PCR with a primer spanning the exon junction. Biotechniques 34:1244-1249
35. Vandenbroucke II, Vandesompele J, Paepe AD, Messiaen L (2001) Quantification of splice variants using real-time PCR. Nucleic Acids Res 29:E68
36. Carlson JA, Rogers BB, Sifers RN, Hawkins HK, Finegold MJ, Woo SL (1988) Multiple tissues express alpha 1-antitrypsin in transgenic mice and man. J Clin Invest 82:26-36
37. Kelsey GD, Povey S, Bygrave AE, Lovell-Badge RH (1987) Species- and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice. Genes Dev 1:161-171
38. Koopman P, Povey S, Lovell-Badge RH (1989) Widespread expression of human alpha 1-antitrypsin in transgenic mice revealed by in situ hybridization. Genes Dev 3:16-25
39. Brogna S, Wen J (2009) Nonsense-mediated mRNA decay (NMD) mechanisms. Nat Struct Mol Biol 16:107-113
40. Kervestin S, Jacobson A (2012) NMD: a multifaceted response to premature translational termination. Nat Rev Mol Cell Biol 13:700-712
41. Lee J, Novoradovskaya N, Rundquist B, Redwine J, Saltini C, Brantly M (1998) Alpha 1-antitrypsin nonsense mutation associated with a retained truncated protein and reduced mRNA. Mol Genet Metab 63:270-280
42. Boutten A, Venembre P, Seta N, Hamelin J, Aubier M, Durand G et al (1998) Oncostatin M is a potent stimulator of alpha1-antitrypsin secretion in lung epithelial cells: modulation by transforming growth factor-beta and interferon-gamma. Am J Respir Cell Mol Biol 18:511-520
43. Yuan ZA, Soprano KJ, Kueppers F (1992) Alpha-1 antitrypsin response of stimulated alveolar macrophages. J Cell Biochem 49:410-416