Abstract
A base substitution (C----T) at position -88 relative to the cap site was identified in the beta-globin gene cloned from an individual with a mild form of beta-thalassemia. This nucleotide change lies in the sequence ACACCC proposed as a distal promoter element. Transient expression of the mutant gene in HeLa cells revealed a modest deficit in beta-globin mRNA production. RNA processing was normal. The -88 beta-thalassemia mutation lends further support for the in vivo role of the distal element in transcription.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adult
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Base Sequence
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Cloning, Molecular
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Endonucleases
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Female
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Genes*
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Globins / genetics*
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HeLa Cells / metabolism
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Heterozygote
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Humans
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Mutation*
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Operon*
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Polymorphism, Genetic
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Single-Strand Specific DNA and RNA Endonucleases
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Thalassemia / genetics*
Substances
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Globins
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Endonucleases
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Single-Strand Specific DNA and RNA Endonucleases
Associated data
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GENBANK/J00093
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GENBANK/J00094
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GENBANK/J00096
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GENBANK/J00158
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GENBANK/J00159
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GENBANK/J00160
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GENBANK/J00161
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GENBANK/J00162
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GENBANK/J00163
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GENBANK/J00164
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GENBANK/J00165
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GENBANK/J00166
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GENBANK/J00167
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GENBANK/J00168
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GENBANK/J00169
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GENBANK/J00170
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GENBANK/J00171
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GENBANK/J00172
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GENBANK/J00173
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GENBANK/J00174
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GENBANK/J00175
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GENBANK/J00177
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GENBANK/J00178
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GENBANK/J00179
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GENBANK/K01239
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GENBANK/K01890
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GENBANK/K02544
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GENBANK/M18047
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GENBANK/M19067
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GENBANK/X00423