Literature DB >> 1061099

Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia.

Y W Kan, J P Holland, A M Dozy, H E Varmus.   

Abstract

In two Chinese patients with homozygous beta(0)-thalassemia, messenger RNAs from peripheral blood reticulocytes and the bone marrow failed to direct beta-chain synthesis in vivo and in vitro in a cell-free system. Molecular hybridization showed that the beta cDNA annealed to the RNAs at almost the same rate as the alpha and gamma cDNA. The beta cDNA-RNA hydrid formed efficiently and was thermally stable, whereas hybrids between gamma and beta sequences formed slowly and denatured at a significantly lower temperature. Thus, we conclude that the beta cDNA was annealing to beta-globin sequences in these two patients, and that nonfunctional beta-globin mRNA was present. Similar results were obtained in the reticulocyte RNA from an Italian patient with homozygous beta(0)-thalassemia.

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Year:  1975        PMID: 1061099      PMCID: PMC388892          DOI: 10.1073/pnas.72.12.5140

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN: 0027-8424            Impact factor:   11.205


  17 in total

1.  Use of globin cDNA as a hybridization probe for globin mRNA.

Authors:  D Housman; A Skoultchi; B G Forget; E J Benz
Journal:  Ann N Y Acad Sci       Date:  1974-11-29       Impact factor: 5.691

2.  Regulated expression of mammalian genes: globin and immunoglobulin as model systems.

Authors:  P Leder; J Ross; J Gielen; S Packman; Y Ikawa; H Aviv; D Swan
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1974

3.  Induction of -globin synthesis in the -thalassaemia of Ferrara.

Authors:  F Conconi; P T Rowley; L Del Senno; S Pontremoli; S Volpato
Journal:  Nat New Biol       Date:  1972-07-19

4.  Absence of messenger RNA for beta globin chain in beta(0) thalassaemia.

Authors:  B G Forget; E J Benz; A Skoultchi; C Baglioni; D Housman
Journal:  Nature       Date:  1974-02-08       Impact factor: 49.962

Review 5.  The specificity of molecular hybridization reactions.

Authors:  B J McCarthy; R B Church
Journal:  Annu Rev Biochem       Date:  1970       Impact factor: 23.643

6.  Mammalian cell-free protein synthesis directed by viral ribonucleic acid.

Authors:  M Mathews; A Korner
Journal:  Eur J Biochem       Date:  1970-12

7.  Hemoglobin messenger RNA from human bone marrow. Isolation and translation in homozygous and heterozygous beta-thalassemia.

Authors:  A W Nienhuis; P H Canfield; W F Anderson
Journal:  J Clin Invest       Date:  1973-07       Impact factor: 14.808

8.  Globin chain synthesis in the alpha thalassemia syndromes.

Authors:  Y W Kan; E Schwartz; D G Nathan
Journal:  J Clin Invest       Date:  1969-11       Impact factor: 14.808

9.  Quantitative deficiency of chain-specific globin messenger ribonucleic acids in the thalassemia syndromes.

Authors:  D Housman; B G Forget; A Skoultchi; E J Benz
Journal:  Proc Natl Acad Sci U S A       Date:  1973-06       Impact factor: 11.205

10.  Decreased globin messenger RNA in thalassemia detected by molecular hybridization.

Authors:  D L Kacian; R Gambino; L W Dow; E Grossbard; C Natta; F Ramirez; S Spiegelman; P A Marks; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1973-06       Impact factor: 11.205

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  16 in total

1.  Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

Authors:  M Garbarz; W T Tse; P G Gallagher; C Picat; M C Lecomte; F Galibert; D Dhermy; B G Forget
Journal:  J Clin Invest       Date:  1991-07       Impact factor: 14.808

2.  Partial mispairing and crossing-over between beta 0 and delta genes as the origin of the delta beta 0 thalassemia gene. A single mutational event hypothesis.

Authors:  J M Cantú; B Ibarra; G Vaca; M L Ramirez; J Sánchez-Corona
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

3.  The structure of the human beta-globin gene in beta-thalassaemia.

Authors:  R A Flavell; R Bernards; J M Kooter; E de Boer; P F Little; G Annison; R Williamson
Journal:  Nucleic Acids Res       Date:  1979-06-25       Impact factor: 16.971

4.  Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.

Authors:  F Ramirez; J G Mears; U Nudel; A Bank; L Luzzatto; G DiPrisco; R D'Avino; G Pepe; L Camardella; R Gambino; R Cimino; N Quattrin
Journal:  J Clin Invest       Date:  1979-04       Impact factor: 14.808

5.  A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia.

Authors:  E Prades; C Chambon; T A Dailey; H A Dailey; J Brière; B Grandchamp
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

Review 6.  The thalassemias: molecular mechanisms of human genetic disease.

Authors:  R A Spritz; B G Forget
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

7.  Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.

Authors:  P M Anderson; R M Reddy; K E Anderson; R J Desnick
Journal:  J Clin Invest       Date:  1981-07       Impact factor: 14.808

Review 8.  The molecular basis of disorders of human hemoglobin synthesis.

Authors:  F Ramirez; J G Mears; A Bank
Journal:  Mol Cell Biochem       Date:  1980-08-16       Impact factor: 3.396

9.  beta 0 thalassemia, a nonsense mutation in man.

Authors:  J C Chang; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-06       Impact factor: 11.205

10.  The nucleotide sequences of the untranslated 5' regions of human alpha- and beta-globin mRNAs.

Authors:  J C Chang; G F Temple; R Poon; K H Neumann; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1977-11       Impact factor: 11.205

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