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• W2055075101 abstract "Summary The mechanisms by which mutations within the 5′ untranslated region (UTR) of the human β ‐globin gene ( HBB ) cause thalassaemia are currently not well understood. We present here the first comprehensive comparative functional analysis of four ‘silent’ mutations in the human β ‐globin 5′UTR, namely: +10(−T), +22(G → A), +33(C → G) and +(40–43)(−AAAC), which are present in patients with β ‐thalassaemia intermedia . Expression of these genes under the control of the β ‐globin locus control region in stable transfected murine erythroleukaemia cells showed that all four mutations decreased steady state levels of mRNA to 61·6%, 68%, 85·2% and 70·6%, respectively, compared with the wildtype gene. These mutations did not interfere with either mRNA transport from the nucleus to the cytoplasm, 3′ end processing or mRNA stability. Nuclear run‐on experiments demonstrated that mutations +10(−T) and +33(C → G) reduced the rate of transcription to a degree that fully accounted for the observed lower level of mRNA accumulation, suggesting a disruption of downstream promoter sequences. Interestingly, mutation +22(G → A) decreased the rate of transcription to a low degree, indicating the existence of a mechanism that acts post‐transcriptionally. Generally, our data demonstrated the significance of functionally analysing mutants of this type in the presence of a full complement of transcriptional regulatory elements within a stably integrated chromatin context in an erythroid cell environment." @default.
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• W2055075101 date "2004-02-12" @default.
• W2055075101 modified "2023-10-16" @default.
• W2055075101 title "Thalassaemia mutations within the 5′UTR of the human <i>β</i> -globin gene disrupt transcription" @default.
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• W2055075101 doi "https://doi.org/10.1111/j.1365-2141.2004.04835.x" @default.
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