Haploinsufficiency due to deletion within the 3′-UTR of C1-INH-gene associated with hereditary angioedema

Genetics in Medicine

Volumn 8, Issue 4, 2006, Pages 249-254

  Laimer, Martin ^a   Klausegger, Alfred ^a   Aberer, Werner ^b   Oender, Kamil ^a   Steinhuber, Mathias ^c   Lanschuetzer, Christoph M ^c   Wally, Verena ^a   Hintner, Helmut ^a   Bauer, Johann W ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c NONE

Author keywords

3 UTR; C1 inhibitor; Deletion; Hereditary angioedema; mRNA

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR;

3' UNTRANSLATED REGION; ADULT; ANGIONEUROTIC EDEMA; ARTICLE; C1 INH GENE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE SEQUENCE; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; NEPHELOMETRY; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA TRANSPORT; STOP CODON; TRANSCRIPTION REGULATION;

EID: 33646799489     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000214302.90076.fa     Document Type: Article

References (32)

1. Davis AE 3rd. The pathogenesis of hereditary angioedema. Transfusion and Apheresis Science 2003;29:195-203.
2. Davis AE 3rd. Biological effects of C1 inhibitor. Drug News Perspect 2004;17:439-446.
3. Zahedi K, Bissler JJ, Prada AE, Davis AE 3rd. The promoter of the C1 inhibitor gene contains a polypurine-polypyrimidine segment that enhances transcriptional activity. J Immunol 1999;162:7249-7255.
4. Liu D, Gu X, Scafidid J, Davis AE 3rd. N-linked glycosylation is required for c1 inhibitor-mediated protection from endotoxin shock in mice. Infect Immun 2004;72:1946-1955.
5. Cai S, Dole VS, Bergmeier W, Scafidi J, et al. A direct role for C1 inhibitor in regulation of leukocyte adhesion. J Immunol 2005;174:6462-6466.
6. Binkley KE, Davis A 3rd. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol 2000;106:546-550.
7. Gompels MM, Lock RJ, Abinun M, Bethune CA, et al. C1 inhibitor deficiency: consensus document. Clin Exp Immunol 2005;139:379-394.
8. Han ED, MacFarlane RC, Mulligan AN, Scafidid J, et al. Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type2 receptor. J Clin Invest 2002;109:1057-1063.
9. Bowen B, Hawk JJ, Sibunka S, Hovick S, et al. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin Immunol 2001;98:157-163.
10. Tosi M. Molecular genetics of C1 inhibitor. Immunobiology 1998;199:358-365. Erratum in: Immunobiology 1999;200:166.
11. Zuraw BL, Herschbach J. Detection of C1 inhibitor mutations in patients with hereditary angioedema. J Allergy Clin Immunol 2000;105:541-546.
12. Bowen B, Hawk JJ, Sibunka S, Hovick S, et al. A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations. Clin Immun 2001;98:157-163.
13. Natalizio BJ, Muniz LC, Arhin GK, Wilusz J, et al. Upstream elements present in the 3′-untranslated region of collagen genes influence the processing efficiency of overlapping polyadenylation signals. J Biol Chem 2002;277:42733-42740.
14. Zoller B, Garcia de Frutos P, Hillarp A, Dahlback B. Thrombophilia as a multigenic disease. Haematologica 1999;84:59-70.
15. Lane DA, Grant PJ. Role of hemostatic gene polymorphisms. Blood 2000;95:1517-1532.
16. Ji X, Kong J, Liebhaber SA. In vivo association of the stability control protein alphaCP with actively translating mRNAs. Mol Cell Biol 2003;23:899-907.
17. Numahata K, Komagata T, Hirasawa N, Someya K, et al. Analysis of the mechanism regulating the stability of rat macrophage inflammatory protein-2 mRNA in RBL-2H3 cells. J Cell Biochem 2003;90:976-986.
18. Jacobson A, Peltz SW. Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells. Annu Rev Biochem 1996;65:693-739.
19. Bilenoglu O, Basak AN, Russell JE. A 3′UTR mutation affects beta-globin expression without altering the stability of its fully processed mRNA. Br J Haematol 2002;119:1106-1114.
20. Kolomietz E, Meyn MS, Pandita A, Squire JA. The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors. Genes, Chromosomes & Cancer 2002;35:97-112.
21. Deininger PL, Batzer MA. Alu repeats and human disease. Mol Genetics Metabolism 1999;67:183-193.
22. Carter PE, Duponchel C, Tosi M, Fothergill JE. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. Eur J Biochem 1991;197:301-308.
23. Seidman JG, Seidman C. Transcription factor haploinsufficiency: when half a loaf is not enough. J Clin Invest 2002;109:451-455.
24. Faury G, Pezet M, Knutsen RH, Boyle WA, et al. Developmental adaption of the mouse cardiovascular system to elastin haploinsufficiency. J Clin Invest 2003;112:1419-1428.
25. Kondo S, Schutte BC, Richardson RJ, Bjork BC, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002;32:285-289.
26. Ferrer J. A genetic switch in pancreatic beta-cells: implications for differentiation and haploinsufficiency. Diabetes 2002;51:2355-2362.
27. Hu G, Vastardis H, Bendall AJ, Wang Z, et al. Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis. Mol Cell Biology 1998;18:6044-6051.
28. Amack JD, Reagan SR, Mahadevan MS. Mutant DMPK 3′-UTR transcripts disrupt C2C12 myogenic differentiation by compromising MyoD. J Cell Biol 2002;159:419-429.
29. Lachmann P, Rosen F. The catabolism of C1-inhibitor and the pathogenesis of hereditary angioedema. Acta Pathol, Microbiol Immunol Scand 1984;284:35-39.
30. Woo P, Lachmann PJ, Harrison RA, Amos N, et al. Simultaneous turnover of normal and dysfunctional c1 inhibitor as a probe of in vivo activation of C1 and contact activatable proteases. Clin Exp Immunol 1985;61:1-8.
31. Ernst SC, Circolo A, Davis AE, Gheesling-Mullis K, et al Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with a duplication in exon 8. J Immunol 1996;157:405-410.
32. Kramer J, Rosen F, Colten H, Rajezy K, et al. Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema. J Clin Invest 1993;91:1258-1262.