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Retinoic acid metabolic and signaling pathwayas as targets for detection of genetic variation in congenital heart disease: a screen for changes in the raldh2 gene (2003)

  • Authors:
  • Autor USP: XAVIER NETO, JOSE - ICB
  • Unidade: ICB
  • Assunto: HISTOLOGIA
  • Language: Português
  • Abstract: Objetivo: To investigate the role of genes in the retinoic acid (RA) pathway in human congenital heart disease. Métodos e Resultados: We developed a DHPLC screen for genetic variants in RA metabolic and signaling pathways. Using the gene of the major retinaldehyde dehydrogenase RALDH2 as a prototype we screened 82 patients with Tetralogy of Fallot (TF), Ebstein's anomaly (EA), atrial and ventricular septal defects, transposition of great vessels and dextrocardia for alterations in coding as well as in regulatory sequences. All coding exons were screened as well as 3 blocks of the promoter containing putative binding sites for cardiac transcription factors conserved between humans and mice. We detected 7 RALDH2 gene variants (1 exonic and 6 intronic). No variants were found in the promoter. One patient with TF displayed a synonymous change in exon 4 of the transition type (A496G). Further analysis of A496G indicated that it was not represented in 100 chromosomes of healthy individuals.) RNA folding analysis indicated that the A496G variant produced substantial changes in mRNA structure suggesting a possible role of this variant in mRNA stability. In a patient with EA we detected a G to C change occurring in intron 3, 25 bp from the splice acceptor site. All other variants were deep intronic: intron 2 (C to T in 3 patients), intron 3 (G to A in 5 patients), intron 5 (G to T in 12 patients), intron 6 (insertion of A in one patient), intron 8 (G to A in 37patients). Conclusões: The RALDH2 screen identified 2 rare variants with yet undefined potentials for changes in gene expression, as well as 5 more frequent intronic changes that have little potencial for gene expression, but can be useful as markers for linkage disequilibrium and association studies
  • Imprenta:
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  • Conference titles: Reunião Anual da Federação de Sociedades de Biologia Experimental, FeSBE

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    • ABNT

      RUIZ, V.; PEREIRA, A. da C.; MESQUITA, S.; et al. Retinoic acid metabolic and signaling pathwayas as targets for detection of genetic variation in congenital heart disease: a screen for changes in the raldh2 gene. Anais.. Curitiba, Paraná: Federação de Sociedades de Biologia Experimental, 2003.
    • APA

      Ruiz, V., Pereira, A. da C., Mesquita, S., Silva, F. A., Lopes, A. A. B., Krieger, J. E., & Xavier-Neto, J. (2003). Retinoic acid metabolic and signaling pathwayas as targets for detection of genetic variation in congenital heart disease: a screen for changes in the raldh2 gene. In Resumos. Curitiba, Paraná: Federação de Sociedades de Biologia Experimental.
    • NLM

      Ruiz V, Pereira A da C, Mesquita S, Silva FA, Lopes AAB, Krieger JE, Xavier-Neto J. Retinoic acid metabolic and signaling pathwayas as targets for detection of genetic variation in congenital heart disease: a screen for changes in the raldh2 gene. Resumos. 2003 ;
    • Vancouver

      Ruiz V, Pereira A da C, Mesquita S, Silva FA, Lopes AAB, Krieger JE, Xavier-Neto J. Retinoic acid metabolic and signaling pathwayas as targets for detection of genetic variation in congenital heart disease: a screen for changes in the raldh2 gene. Resumos. 2003 ;


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