Literature DB >> 6292840

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

A J Kinniburgh, L E Maquat, T Schedl, E Rachmilewitz, J Ross.   

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.

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Year:  1982        PMID： 6292840      PMCID： PMC320886          DOI： 10.1093/nar/10.18.5421

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  32 in total

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Authors:  M Cohen-Solal; Y Blouquit; M C Garel; J Thillet; L Gaillard; R Creyssel; A Gibaud; J Rosa
Journal:  Biochim Biophys Acta       Date:  1974-06-07

2.  Isolation and characterization of ribosome-free cytoplasmic messenger-ribonucleoprotein complexes from avian erythroblasts.

Authors:  E S Gander; A G Stewart; C M Morel; K Scherrer
Journal:  Eur J Biochem       Date:  1973-10-18

3.  beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].

Authors:  J G Adams; M H Steinberg; M V Newman; W T Morrison; E J Benz; R Iyer
Journal:  Proc Natl Acad Sci U S A       Date:  1981-01       Impact factor: 11.205

4.  Distribution of cytoplasmic poly(A+)RNA sequences in free messenger ribonucleoprotein and polysomes of mouse ascites cells.

Authors:  A J Kinniburgh; M D McMullen; T E Martin
Journal:  J Mol Biol       Date:  1979-08-25       Impact factor: 5.469

5.  Characterization of poly(A+)RNA in free messenger ribonucleoprotein and polysomes of mouse Taper ascites cells.

Authors:  M D McMullen; P H Shaw; T E Martin
Journal:  J Mol Biol       Date:  1979-08-25       Impact factor: 5.469

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

Authors:  N Moschonas; E de Boer; F G Grosveld; H H Dahl; S Wright; C K Shewmaker; R A Flavell
Journal:  Nucleic Acids Res       Date:  1981-09-11       Impact factor: 16.971

7.  A new nonsense mutation as the molecular basis for beta thalassaemia.

Authors:  J Gorski; M Fiori; B Mach
Journal:  J Mol Biol       Date:  1982-01-25       Impact factor: 5.469

8.  The isolation of structural genes from libraries of eucaryotic DNA.

Authors:  T Maniatis; R C Hardison; E Lacy; J Lauer; C O'Connell; D Quon; G K Sim; A Efstratiadis
Journal:  Cell       Date:  1978-10       Impact factor: 41.582

9.  Absence of beta mRNA in beta0-thalassemia in Kurdish Jews.

Authors:  F Ramirez; D Starkman; A Bank; H Kerem; G Cividalli; E A Rachmilewitz
Journal:  Blood       Date:  1978-10       Impact factor: 22.113

10.  Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.

Authors:  R A Spritz; P Jagadeeswaran; P V Choudary; P A Biro; J T Elder; J K deRiel; J L Manley; M L Gefter; B G Forget; S M Weissman
Journal:  Proc Natl Acad Sci U S A       Date:  1981-04       Impact factor: 11.205
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  37 in total

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Authors:  M B Benjamin; J B Little
Journal:  Mol Cell Biol       Date:  1992-06       Impact factor: 4.272

2.  Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

Authors:  M Krawczak; D N Cooper
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

3.  Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.

Authors:  B G Schach; S Yoshitake; E W Davie
Journal:  J Clin Invest       Date:  1987-10       Impact factor: 14.808

4.  Regulation of asparagine synthetase gene expression by amino acid starvation.

Authors:  S S Gong; L Guerrini; C Basilico
Journal:  Mol Cell Biol       Date:  1991-12       Impact factor: 4.272

5.  Adhn4 of Drosophila melanogaster is a nonsense mutation.

Authors:  W Chia; C Savakis; R Karp; M Ashburner
Journal:  Nucleic Acids Res       Date:  1987-05-11       Impact factor: 16.971

6.  Nonsense-mediated RNA decay--a switch and dial for regulating gene expression.

Authors:  Jenna E Smith; Kristian E Baker
Journal:  Bioessays       Date:  2015-03-27       Impact factor: 4.345

7.  New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

Authors:  G F Atweh; H E Brickner; X X Zhu; H H Kazazian; B G Forget
Journal:  J Clin Invest       Date:  1988-08       Impact factor: 14.808

8.  Beta -Globin mRNA decay in erythroid cells: UG site-preferred endonucleolytic cleavage that is augmented by a premature termination codon.

Authors:  Audrey Stevens; Yang Wang; Kirsten Bremer; Jing Zhang; Robert Hoepfner; Michael Antoniou; Daniel R Schoenberg; Lynne E Maquat
Journal:  Proc Natl Acad Sci U S A       Date:  2002-09-19       Impact factor: 11.205

9.  Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products.

Authors:  S K Lim; C D Sigmund; K W Gross; L E Maquat
Journal:  Mol Cell Biol       Date:  1992-03       Impact factor: 4.272

10.  Determination of mRNA fate by different RNA polymerase II promoters.

Authors:  J Enssle; W Kugler; M W Hentze; A E Kulozik
Journal:  Proc Natl Acad Sci U S A       Date:  1993-11-01       Impact factor: 11.205
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