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Esposito , Claudio (2007) Caratterizzazione di mutazioni nel gene COL5A1 che causano aploinsufficienza nella Sindrome di Ehlers - Danlos. [Laurea vecchio ordinamento]

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Abstract

Studio sulla sindrome di Ehlers Dahnlos (EDS). Sono state cercate mutazioni non senso nella sequenza codificante di COL5A1 mediante Protein Truncation Test.

Tipologia del documento:Laurea vecchio ordinamento
Corsi di Laurea vecchio ordinamento:Facoltà di Scienze MM. FF. NN. > CL Scienze Biologiche
Parole chiave:Ehlers Danlos Nonsense Mediated Decay Aploinsufficienza
Settori scientifico-disciplinari del MIUR:Area 05 - Scienze biologiche > BIO/18 Genetica
Codice ID:14025
Relatore:Zordan, Mauro
Data della tesi:2007
Biblioteca:Polo di Scienze > CIS "A. Vallisneri" - Biblioteca Biologico Medica
Tipo di fruizione per il documento:on-line per i full-text
Tesi sperimentale (Si) o compilativa (No)?:No

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Le url contenute in alcuni riferimenti sono raggiungibili cliccando sul link alla fine della citazione (Vai!) e tramite Google (Ricerca con Google). Il risultato dipende dalla formattazione della citazione e non da noi.

Andrikopoulos K, Liu, X, Keene D R, Jaenisch R, Ramirez F (1995) Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during Matrix assembly. Nature Genet. 9: 31-36 Cerca con Google

Beighton P, De Paepe A, Danks D (1988) International nosology of hereditable disorders of connective tissue. Am J Med Genet 29: 581-594 Cerca con Google

Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup R J (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am. J. Med. Genet. 77: 31-37 Cerca con Google

Belgrader P, Cheng J, Maquat LE. Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA. Proc Natl Acad Sci U S A. 1993 Jan 15;90(2):482-6 Cerca con Google

Bornstein, P. (1998) Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. J. Cell Biol. 140: 419-430 Cerca con Google

Bouma P,Wayne A, Cabral A, William G, Marini J C (2001) COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of ?1(V) and abnormal heterotypic insterstial fibrils in Ehlers-Danlos syndrome II. J Biol. Chemistry276, No 16: 13356-13364 Cerca con Google

Burrows NP, Nicholls AC, Yates JR, Gatward G, Sarathachandra P, Richards A, Pope FM (1996) The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. J Invest Dermatol. 106(6): 1273-6 Cerca con Google

Byers PH (1997) Ehlers-Danlos syndrome. In Rimoin DL, Connor JM, Pyeritz RE, Emery and Rimoin’s principle and practical genetics,Vol 1: 1067-1081 Cerca con Google

Carter MS, Doskow J, Morris P, Li S, Nhim RP, Sandstedt S, Wilkinson MF. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro. J Biol Chem. 1995 Dec 1;270(48):28995-9003 Cerca con Google

Danielson K, Baribault H, Holmes D, Graham H, Kadler K, Iozzo R (1997) Targeted disruption of decorin leads to abnormal collagen fibril morphology and fragility. J Cell Biology136: 729-743 Cerca con Google

Danielson K, Baribault H, Holmes D, Graham H, Kadler K, Iozzo R (1997) Targeted disruption of decorin leads to abnormal collagen fibril morphology and fragility. J Cell Biology136: 729-743 Cerca con Google

De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM (1997) Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 60(3): 547-54 Cerca con Google

Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, Francomano CA. Cerca con Google

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics. 1993 Aug;17(2):468-75 Cerca con Google

Fasken MB, Corbett AH. Process or perish: quality control in mRNA biogenesis. Nat Struct Mol Biol. 2005 Jun;12(6):482-8. Review Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science. 2002 Mar 22;295(5563):2258-61 Cerca con Google

Gatfield D, Izaurralde E. Nonsense-mediated messenger RNA decay is initiated by endonucleolytic cleavage in Drosophila. Nature. 2004 Jun 3;429(6991):575-8 Cerca con Google

Giunta C, Steinmann B (2000) Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution inOL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? Am J Med Genet. 3;90(1): 72-9 Cerca con Google

Greenspan DS, Northrup H, Au KS, McAllister K A, Francomano CA, Wenstrup RJ, Marchuk DA, Kwiatkowski DJ (1995) COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II. Genomics 25: 737-739 Cerca con Google

Hall, G.W. and Thein, S. (1994) Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia. Blood, 83, 2031-2037 Cerca con Google

Iamamura Y, Scott I, Greenspan DS (2000) The pro ?3(V) collagen chain. J. Biol.Chemistry 275, No 12: 8749-8759 Cerca con Google

Ishigaki Y, Li X, Serin G, Maquat LE. Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell. 2001 Sep 7;106(5):607-17 Cerca con Google

Kim VN, Kataoka N, Dreyfuss G. Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex. Science. 2001 Sep 7;293(5536):1832-6 Cerca con Google

Kim YK, Furic L, Desgroseillers L, Maquat LE. Mammalian Staufen1 recruits Upf1 to specific mRNA 3'UTRs so as to elicit mRNA decay. Cell. 2005 Jan 28;120(2):195-208 Cerca con Google

Kyriakides T R, Zhu YH, Smith L T, Bain S D, Yang Z, Lin M T, Danielson K G, Iozzo R V, LaMarca M, McKinney C E, Ginns E I, Bornstein, P. (1998) Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. J. Cell Biol. 140: 419-430 Cerca con Google

Leisenmayer TF, Gibney E, Igoe F, Fitch JM, Fessler LI, Birk DE, (1993) Type V collagen: molecular structure and fibrillar organization of the chicken ?1(V) NH2 terminal domain, a putative regulator of corneal fibrillogenesis. J. Cell Biol. 121: 1181-1189 Cerca con Google

Lejeune F, Maquat LE. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol. 2005 Jun;17(3):309-15 Cerca con Google

Lykke-Andersen J, Shu MD, Steitz JA. Communication of the position of exon-exon junctions to the mRNA surveillance machinery by the protein RNPS1. Science. 2001 Sep 7;293(5536):1836-9 Cerca con Google

Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 2005 Jan;25(1):28-37. Cerca con Google

Mao JR, Taylor G, Dean WB, Wagner DR, Afzal V, Lotz JC, Rubin EM, Bristow J. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat Genet. 2002 Apr;30(4):421-5. Epub 2002 Mar 4. Cerca con Google

Maquat, L E. Skiing toward nonstop mRNA decay. Science. 2002; 295: 2221 – 2. Cerca con Google

Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol. 2004 Feb;5(2):89-99 Cerca con Google

Maquat LE. Nonsense-mediated mRNA decay: a comparative analysis of different species. Curr Genomics 2004;5:175-190 Cerca con Google

Menon KP, Neufeld EF. Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles. Cell Mol Biol (Noisy-le-grand). 1994 Nov;40(7):999-1005 Cerca con Google

Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG (1998) Mutations of the alpha-2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. Hum. Molec. Genet. 7: 249-255 Cerca con Google

Mitchell P, Tollervey D. An NMD pathway in yeast involving accelerated deadenylation and exosome-mediated 3'-->5' degradation. Mol Cell. 2003 May;11(5):1405-13 Cerca con Google

Mitrovich QM, Anderson P. Unproductively spliced ribosomal protein mRNAs are natural targets of mRNA surveillance in C. elegans. Genes Dev. 2000 Sep 1;14(17):2173-84 Cerca con Google

Muhlrad D, Decker CJ, Parker R. Deadenylation of the unstable mRNA encoded by the yeast MFA2 gene leads to decapping followed by 5'-->3' digestion of the transcript. Genes Dev. 1994 Apr 1;8(7):855-66 Cerca con Google

Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci. 1998 Jun;23(6):198-9 Cerca con Google

Nicholls AC, McCarron S, Narcisi P, Pope FM (1994) Molecular abnormalities of type V collagen in Ehlers Danlos syndrome. Am. J.Hum. Genet. 55 (suppl.): A233 Cerca con Google

Nicholls AC, Oliver JE, McCarron S, Harrison JB, Greenspan DS, Pope FM (1996) An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J Med Genet. 33(11): 940-6 Cerca con Google

Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am J Hum Genet. 2000 Apr;66(4):1398-402. Epub 2000 Mar 17. Cerca con Google

Oliveira CC, McCarthy JE. The relationship between eukaryotic translation and mRNA stability. A short upstream open reading frame strongly inhibits translational initiation and greatly accelerates mRNA degradation in the yeast Saccharomyces cerevisiae. J Biol Chem. 1995 Apr 14;270(15):8936-43 Cerca con Google

Peltz SW, Brown AH, Jacobson A. mRNA destabilization triggered by premature translational termination depends on at least three cis-acting sequence elements and one trans-acting factor. Genes Dev. 1993 Sep;7(9):1737-54 Cerca con Google

Qian L, Theodor L, Carter M, Vu MN, Sasaki AW, Wilkinson MF. T cell receptor-beta mRNA splicing: regulation of unusual splicing intermediates. Mol Cell Biol. 1993 Mar;13(3):1686-96 Cerca con Google

Richards AJ, Martin S, Nicholls AC, Harrison JB, Pope FM, Burrows NP (1998) A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet.35(10): 846-8 Cerca con Google

Roest PA, Roberts RG, Sugino S, van Ommen GJ, den Dunnen JT. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet. 1993 Oct;2(10):1719-21 Cerca con Google

Ruiz-Echevarria MJ, Peltz SW. The RNA binding protein Pub1 modulates the stability of transcripts containing upstream open reading frames. Cell. 2000 Jun 23;101(7):741-51 Cerca con Google

Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers P (2000) Null Alleles of the COL 5A1 of Type V collagen are a cause of the classical forms of Ehlers-Danlos Syndrome(type I and II). Am. J. Genet. 66: 1757-1765 Cerca con Google

Sambrook – McCallum – Russel, 2001 Molecular Cloning: a laboratory manual, third edition Cerca con Google

Serin G, Gersappe A, Black JD, Aronoff R, Maquat LE. Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). Mol Cell Biol. 2001 Jan;21(1):209-23 Cerca con Google

Takahara K, Sato Y, Okazawa K, Okamoto N, Noda N, Yaoi Y, Kato Y (1991) Complete primary structure of human collagen alpha 1(V) chains. J. Biol. Chemistry 266: 13124-13129 Cerca con Google

Thein, S.L., Hesketh, C., Taylor, P., Temperley, I.J., Hutchinson, R.M., Old, J.M., Wood, W.G., Clegg, J.B. and Weatherall, D.J. (1990) Molecular basis for dominantly inherited inclusion body beta-thalassemia. Proc. Natl Acad. Sci. USA, 87, 3924-3928 Cerca con Google

Thermann R, Neu-Yilik G, Deters A, Frede U, Wehr K, Hagemeier C, Hentze MW, Kulozik AE. Binary specification of nonsense codons by splicing and cytoplasmic translation. EMBO J. 1998 Jun 15;17(12):3484-94 Cerca con Google

Toriello HV, Glover TW, Takahara K, Byers PH, Miller DE, Higgins JV, Greenspan DS (1996) Cerca con Google

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat Genet. 13(3): 361-5 Cerca con Google

Utani W, Endo H, Shinkai H. (2001) Deficiency of the decorin core protein in the variant form of Ehlers-Danlos sindrome with chronic skin ulcer. J Dermatol Sci 27(2): 95-103 Cerca con Google

Van der Luijt R, Khan PM, Vasen H, van Leeuwen C, Tops C, Roest P, den Dunnen J, Fodde R. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics. 1994 Mar 1;20(1):1-4. Cerca con Google

Valkkila M, Melkoniemi M, Kvist L, Kuivaniemi H, Tromp G, Ala-Kokko L (2001) Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Matrix Biology 20: 357-366 Cerca con Google

Van Hoof A, Frischmeyer PA, Dietz HC, Parker R. Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science. 2002 Mar 22;295(5563):2262-4 Cerca con Google

Vogel A, Holbrook KA, Steinmann B, Gitzelmann R, Byers PH (1979) Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab. Invest. 40: 201-206 Cerca con Google

Vuorio E, and the Crombrugghe B (1990) The family of collagen genes. Annu. Rev. Biochem. 59: 837-872 Cerca con Google

Welch EM, Jacobson A. An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA. EMBO J. 1999 Nov 1;18(21):6134-45 Cerca con Google

Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG (1996) A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum Mol Genet. 5(11): 1733-6 Cerca con Google

Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole W G (2000) COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Genet. 66: 1766-1776 Cerca con Google

Wordsworth BP, Ogilvie DJ, Sykes BC. Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome. Br J Rheumatol. 1991 Jun;30(3):173-7 Cerca con Google

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