mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

Abstract:

:The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We have previously shown that the beta-globin mRNA of this patient is correctly spliced and polyadenylated, but rapidly turns over with a half-life of less than 30 min. We suggest that the rapid mRNA turnover is influenced by the deletion of this single nucleotide as well as by the nonsense codon.

journal_name

Nucleic Acids Res

journal_title

Nucleic acids research

authors

Kinniburgh AJ,Maquat LE,Schedl T,Rachmilewitz E,Ross J

doi

10.1093/nar/10.18.5421

subject

Has Abstract

pub_date

1982-09-25 00:00:00

pages

5421-7

issue

18

eissn

0305-1048

issn

1362-4962

journal_volume

10

pub_type

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