Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

R Treisman, SH Orkin, T Maniatis - Nature, 1983 - nature.com
R Treisman, SH Orkin, T Maniatis
Nature, 1983nature.com
Transcriptional analysis of five different cloned β-thalassaemia genes introduced into
cultured mammalian cells revealed specific defects in transcription and RNA splicing. A
single base change 87 base pairs to the 5′ side of the mRNA cap site significantly lowers
the level of transcription and therefore appears to represent a promoter mutation. Three
genes contain different single base changes in the first intervening sequence (IVS) 5′
splice site. One mutation, at IVS1 position 1, inactivates the splice site completely; the other …
Abstract
Transcriptional analysis of five different cloned β-thalassaemia genes introduced into cultured mammalian cells revealed specific defects in transcription and RNA splicing. A single base change 87 base pairs to the 5′ side of the mRNA cap site significantly lowers the level of transcription and therefore appears to represent a promoter mutation. Three genes contain different single base changes in the first intervening sequence (IVS) 5′ splice site. One mutation, at IVS1 position 1, inactivates the splice site completely; the other two, at IVS I positions 5 and 6, reduce its activity. Each mutation activates the same three cryptic splice sites. The fifth gene contains a single base change within IVS2 at position 745, which results in the formation of abnormal β-globin RNA that contains an extra exon.
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