Abstract:
:The 5' untranslated region (5'UTR) of beta-globin has been well characterized and is often used as a model for eukaryotic transcription/translation, but there are still questions regarding the mechanism of translational control. Mutations affecting the Cap site at + 1 and at positions +10, +22, +33 and +40-43 have been described, and it is thought that the initiator element required for transcription stretches from -2 to +7 relative to the Cap site with a downstream element situated from +10 to +15. The influence on initiation or translation of sequences between +7 and +10 is unknown. We report here a family with beta-thalassemia (beta-thal) who have a + 8 (CT) mutation. Molecular studies indicate that this mutation leads to a reduction in mRNA levels and we discuss the implications of a CT change at this position on the transcription/translation process.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Van de Water N,Tan T,Chan G,Cole N,Browett Pdoi
10.1080/03630260701798375subject
Has Abstractpub_date
2008-01-01 00:00:00pages
247-53issue
3eissn
0363-0269issn
1532-432Xpii
793097630journal_volume
32pub_type
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