TY - JOUR
T1 - mRNA-deficint β-thaladssemia results from a single nucleotide deletion
AU - Kinniburgh, Alan J.
AU - Maquat, Lynne E.
AU - Schedl, Timothy
AU - Rachmilewitz, Eliezer
AU - Ross, Jeffrey
N1 - Funding Information:
ACKNOWLEDGEMENTS This work was supported by NIH grant CA-23076 to J.R. and Dr. William Dove, and an NIH postdoctoral grant 5F32-HLO6091-O2 to L.E.M. T.S. was supported by a predoctoral training grant from the MIH, NCI CA-09135. The authors thank Libby Wiederhold and Carol McLeester for expert technical assistance, and Karen Denk and Ina Young for preparation of the manuscript.
PY - 1982/9/25
Y1 - 1982/9/25
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0020491122&partnerID=8YFLogxK
U2 - 10.1093/nar/10.18.5421
DO - 10.1093/nar/10.18.5421
M3 - Article
C2 - 6292840
AN - SCOPUS:0020491122
SN - 0305-1048
VL - 10
SP - 5421
EP - 5427
JO - Nucleic acids research
JF - Nucleic acids research
IS - 18
ER -