Literature DB >> 7598711

Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs.

J F Chassé1, E Paly, D Paris, V Paul, P M Sinet, P Kamoun, J London.   

Abstract

A CBS cDNA isolated from an adult liver cDNA library was cloned and sequenced. The 5' untranslated region (5'-UTR) contains a sequence which is only partially common (88nt) with that previously published (3). It is expressed as a 2.5kb species mostly in liver and pancreas and faintly in brain, heart, kidney and lung and as a 3.7 kb in pancreas and liver. The human cystathionine beta-synthase gene (CBS) was isolated from a cosmid genomic library and its structure was determined. The CBS gene is at least 23 kb long and is composed of 17 exons. The organization of the human gene is different from that of the rat especially in the 5'-UTR. In the rat gene the ATG is present in exon 1, conversely in the human gene first the ATG is present in exon 3 and second the 5'-UTR contains two different exons 1 (E1a and E1b) linked with exon 2.

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Year:  1995        PMID: 7598711     DOI: 10.1006/bbrc.1995.1886

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  10 in total

1.  Sex-specific association of sequence variants in CBS and MTRR with risk for promoter hypermethylation in the lung epithelium of smokers.

Authors:  Kristina G Flores; Christine A Stidley; Amanda J Mackey; Maria A Picchi; Sally P Stabler; Jill M Siegfried; Tim Byers; Marianne Berwick; Steven A Belinsky; Shuguang Leng
Journal:  Carcinogenesis       Date:  2012-06-04       Impact factor: 4.944

2.  Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

Authors:  Sook-Jin Lee; Dong Hwan Lee; Han-Wook Yoo; Soo Kyung Koo; Eun-Sook Park; Joo-Won Park; Hun Gil Lim; Sung-Chul Jung
Journal:  J Hum Genet       Date:  2005-10-05       Impact factor: 3.172

3.  Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

Authors:  M Coudé; J Aupetit; M T Zabot; P Kamoun; B Chadefaux-Vekemans
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

4.  Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing.

Authors:  J F Chassé; V Paul; R Escañez; P Kamoun; J London
Journal:  Mamm Genome       Date:  1997-12       Impact factor: 2.957

5.  Homocysteine induces cardiomyocyte dysfunction and apoptosis through p38 MAPK-mediated increase in oxidant stress.

Authors:  Xu Wang; Lei Cui; Jacob Joseph; Bingbing Jiang; David Pimental; Diane E Handy; Ronglih Liao; Joseph Loscalzo
Journal:  J Mol Cell Cardiol       Date:  2011-12-29       Impact factor: 5.000

6.  Characterisation of a human liver cystathionine beta synthase mRNA sequence corresponding to the c.[833T>C;844_845ins68] mutation in CBS gene.

Authors:  Jean-François Chassé; Robert Barouki
Journal:  Mol Cell Biochem       Date:  2009-07-11       Impact factor: 3.396

7.  A novel mouse model for Down syndrome that harbor a single copy of human artificial chromosome (HAC) carrying a limited number of genes from human chromosome 21.

Authors:  Kenichi Miyamoto; Nobutaka Suzuki; Kosuke Sakai; Shuichi Asakawa; Tsuneko Okazaki; Jun Kudoh; Masashi Ikeno; Nobuyoshi Shimizu
Journal:  Transgenic Res       Date:  2013-11-30       Impact factor: 2.788

8.  Comparison of the 5' end of the rat and mouse cystathionine beta-synthase genes.

Authors:  M D Roper; J R Straubhaar; E Kraus; J Sokolová; M Hrebícek; J P Kraus
Journal:  Mamm Genome       Date:  1996-10       Impact factor: 2.957

9.  Hydrogen sulfide inhibits proliferation and release of IL-8 from human airway smooth muscle cells.

Authors:  Mark M Perry; Christopher K Hui; Matthew Whiteman; Mark E Wood; Ian Adcock; Paul Kirkham; Charalambos Michaeloudes; Kian Fan Chung
Journal:  Am J Respir Cell Mol Biol       Date:  2011-02-04       Impact factor: 6.914

10.  The anti-proliferative and anti-inflammatory response of COPD airway smooth muscle cells to hydrogen sulfide.

Authors:  Mark M Perry; Bernadett Tildy; Alberto Papi; Paolo Casolari; Gaetano Caramori; Karen Limbert Rempel; Andrew J Halayko; Ian Adcock; Kian Fan Chung
Journal:  Respir Res       Date:  2018-05-09
  10 in total

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