mRNA-deficint β-thaladssemia results from a single nucleotide deletion

Alan J. Kinniburgh, Lynne E. Maquat, Timothy Schedl, Eliezer Rachmilewitz, Jeffrey Ross

Research output: Contribution to journalArticlepeer-review

67 Scopus citations

Abstract

The β-globin gene of a patient with mRNA-deficient β°-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 β-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.

Original languageEnglish
Pages (from-to)5421-5427
Number of pages7
JournalNucleic acids research
Volume10
Issue number18
DOIs
StatePublished - Sep 25 1982

Fingerprint

Dive into the research topics of 'mRNA-deficint β-thaladssemia results from a single nucleotide deletion'. Together they form a unique fingerprint.

Cite this