We have observed two ABCA1 gene transcripts in human skin fibroblasts, The RT-PCR amplification of the exon 3-exon 8 region generated a normal fragment (740 bp) and an abnormal fragment (600 bp) in a ratio ranging from 3:1 to 8/9:1. These two transcripts were present in other cells such as leukemia T-cells, endothelial and smooth muscle cells as well human hepatoma cells (HepG2). Restriction enzyme analysis and sequencing indicated that in the abnormal fragment exon 3 was followed by exon 5. The complete skipping of exon 4 leads to a premature stop and a predicted translation product of 74 amino acids. The ratio between the normal and alternative transcript is not affected by variation in ABCA1 gene expression induced by incubating cells in serum-free medium and in the presence of cholesterol. It is possible that this alternative splicing represents as mechanism that regulates the ABCA1 content in tissues.
Identification of an alternative transcript of ABCA1 gene in different human cell types / L., Bellincampi; Ml, Simone; C., Motti; C., Cortese; S., Bernardini; S., Bertolini; CALANDRA BUONAURA, Sebastiano. - In: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. - ISSN 0006-291X. - 283:3(2001), pp. 590-597. [10.1006/bbrc.2001.4823]
Identification of an alternative transcript of ABCA1 gene in different human cell types
CALANDRA BUONAURA, Sebastiano
2001
Abstract
We have observed two ABCA1 gene transcripts in human skin fibroblasts, The RT-PCR amplification of the exon 3-exon 8 region generated a normal fragment (740 bp) and an abnormal fragment (600 bp) in a ratio ranging from 3:1 to 8/9:1. These two transcripts were present in other cells such as leukemia T-cells, endothelial and smooth muscle cells as well human hepatoma cells (HepG2). Restriction enzyme analysis and sequencing indicated that in the abnormal fragment exon 3 was followed by exon 5. The complete skipping of exon 4 leads to a premature stop and a predicted translation product of 74 amino acids. The ratio between the normal and alternative transcript is not affected by variation in ABCA1 gene expression induced by incubating cells in serum-free medium and in the presence of cholesterol. It is possible that this alternative splicing represents as mechanism that regulates the ABCA1 content in tissues.Pubblicazioni consigliate
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