Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.
作者： Jean-François Chassé , Robert Barouki
DOI: 10.1007/S11010-009-0189-Z
关键词:
摘要: Cystathionine beta synthase (CBS) is the only reaction that removes homocysteine from methionine cycle and redirects it to transsulfuration pathway. The c.[833T>C;844_845ins68] mutation in CBS gene has been reported initially as corresponding classic homocystinuria. Studies showing insertion associated with very smalls amounts of transcript nucleus; others suggest heterozygous homozygous subjects are protected against hyperhomocysteinemia tends rescue protein function. liver major organ which metabolizes circulating cystathionine. We have determined sequence mRNA gene. shown a novel splicing event could account for modification possibly enzyme activity.
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sci-hub.se 参考文章(27)
G. Andria, G. Sebastio, M. P. Sperandeo, R. de Franchis, A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA. American Journal of Human Genetics. ,vol. 59, pp. 1391- 1393 ,(1996)
G Andria, G Sebastio, M P Sperandeo, J P Kraus, M Panico, R de Franchis, The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. American Journal of Human Genetics. ,vol. 56, pp. 1324- 1333 ,(1995)
Kerry Schwichtenberg, Michelle Bignell, Naomi Q. Hanson, Michael Y. Tsai, High prevalence of a mutation in the cystathionine beta-synthase gene. American Journal of Human Genetics. ,vol. 59, pp. 1262- 1267 ,(1996)
Vanessa Dekou, Vilmundur Gudnason, Emma Hawe, George J Miller, David Stansbie, Steve E Humphries, None, Gene-environment and Gene-gene Interaction in the Determination of Plasma Homocysteine Levels in Healthy Middle-aged Men Thrombosis and Haemostasis. ,vol. 85, pp. 67- 74 ,(2001) , 10.1055/S-0037-1612906
Mette Gaustadnes, Niels Rüdiger, Karsten Rasmussen, Jørgen Ingerslev, None, Intermediate and Severe Hyperhomocysteinemia with Thrombosis: A Study of Genetic Determinants Thrombosis and Haemostasis. ,vol. 83, pp. 554- 558 ,(2000) , 10.1055/S-0037-1613862
Betti Giusti, Olga Camacho-Vanegas, Monica Attanasio, Paolo Comeglio, Anna Maria Gori, Tamara Brunelli, Domenico Prisco, Gian Franco Gensini, Rosanna Abbate, Guglielmina Pepe, Microheterogeneity in the Distribution of the 844ins68 in the Cystathionine β-Synthase Gene in Italy Thrombosis Research. ,vol. 94, pp. 249- 254 ,(1999) , 10.1016/S0049-3848(99)00005-5
Mette Gaustadnes, Jørgen Ingerslev, Niels Rütiger, Prevalence of Congenital Homocystinuria in Denmark New England Journal of Medicine. ,vol. 340, pp. 1513- 1513 ,(1999) , 10.1056/NEJM199905133401915
Leo A.J. Kluijtmans, Godfried H.J. Boers, Frans J.M. Trijbels, Henriëtte M.A. van Lith-Zanders, Lambert P.W.J. van den Heuvel, Henk J. Blom, A Common 844INS68 Insertion Variant in the Cystathionine β-Synthase Gene Biochemical and Molecular Medicine. ,vol. 62, pp. 23- 25 ,(1997) , 10.1006/BMME.1997.2623
Xiaoyin Shan, Roland L Dunbrack Jr, Scott A Christopher, Warren D Kruger, Mutations in the regulatory domain of cystathionine β–synthase can functionally suppress patient-derived mutations in cis Human Molecular Genetics. ,vol. 10, pp. 635- 643 ,(2001) , 10.1093/HMG/10.6.635
J.F. Chasse, E. Paly, D. Paris, V. Paul, P.M. Sinet, P. Kamoun, J. London, Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs. Biochemical and Biophysical Research Communications. ,vol. 211, pp. 826- 832 ,(1995) , 10.1006/BBRC.1995.1886