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PMID: 6272205 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Structure and expression of a cloned beta o thalassaemic globin gene.

Nucleic acids research ·Vol. 9 ·No. 17 ·1981-09-11 ·Pages 4391-401

Moschonas N, de Boer E, Grosveld FG, Dahl HH, Wright S, Shewmaker CK, Flavell RA

Abstract

We have cloned the single beta-globin gene from an Italian patient who is a double heterozygote for beta o/delta beta o thalassaemia. RNA isolated from nucleated red cells from this patient can be translated in vitro to give detectable levels of A gamma- G gamma and alpha-globin, but no beta-globin. S1-mapping transcription studies show that beta-globin mRNA is present at about 1-3% of the level of alpha- and gamma-globin mRNA. In addition, the expression of this gene has been studied by reversed genetics. SV40-plasmid-beta o-globin gene recombinants have been transfected into Hela cells and analysed for beta-globin mRNA. In contrast to the results obtained with mRNA isolated directly from the blood of this patient, in the transfected Hela cells the same level of beta-globin mRNA is seen for the beta o thalassaemic globin gene and for a normal beta-globin gene. To elucidate the nature of the lesion, the entire DNA sequence of the beta-globin gene of this patient has been determined. The sequence shows that this gene contains a termination codon at position 39 (CAG - greater than UAG). Otherwise, there is a remarkable conservation of the entire DNA sequence.

MeSH Terms
Base Sequence Cloning, Molecular DNA/analysis Gene Expression Regulation Globins/genetics Humans RNA, Messenger/analysis Simian virus 40 Thalassemia/genetics
Chemicals
RNA, Messenger Globins DNA
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Moschonas N
de Boer E
Grosveld F G
Dahl H H
Wright S
Shewmaker C K
Flavell R A
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Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/9.17.4391
Published
1981-09-11
Pages
4391-401
Language
English
Region
England
NLM ID
0411011
PMCID
PMC327442
Subset
IM
Databases
GENBANK
J00093, J00094, J00096, J00158, J00159, J00160, J00161, J00162, J00163, J00164, J00165, J00166, J00167, J00168, J00169, J00170, J00171, J00172, J00173, J00174, J00175, J00177, J00178, J00179, K01239, K01890, K02544, M18047, M19067, X00423
External Links
PubMed source DOI: 10.1093/nar/9.17.4391 PMC Full Text View journal details
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