Literature DB >> 88735

beta 0 thalassemia, a nonsense mutation in man.

J C Chang, Y W Kan.   

Abstract

We determined the complete nucleotide sequence of the 5' noncoding region and the first 74 amino acids of the nonfunctional beta-globin mRNA in a patient with homozygous beta 0 thalassemia. We identified the molecular defect as a single nucleotide substitution in the coding region of the mRNA. At the position corresponding to amino acid 17, replacement of an adenine by a uracil changes the triplet AAG, which codes for lysine in the normal beta chain, to an amber termination codon, UAG. This type of beta 0 thalassemia represents an example of a nonsense mutation in man.

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Year:  1979        PMID： 88735      PMCID： PMC383714          DOI： 10.1073/pnas.76.6.2886

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


  34 in total

1.  Hemoglobin Koya Dora: high frequency of a chain termination mutant.

Authors:  W W De Jong; P Meera Khan; L F Bernini
Journal:  Am J Hum Genet       Date:  1975-01       Impact factor: 11.025

2.  Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci.

Authors:  Y W Kan; A M Dozy; H E Varmus; J M Taylor; J P Holland; L E Lie-Injo; J Ganesan; D Todd
Journal:  Nature       Date:  1975-05-15       Impact factor: 49.962

3.  The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion.

Authors:  C BAGLIONI
Journal:  Proc Natl Acad Sci U S A       Date:  1962-11-15       Impact factor: 11.205

4.  In vitro suppression of UAG and UGA mutants in the thymidine kinase gene of herpes simplex virus.

Authors:  K J Cremer; M Bodemer; W P Summers; W C Summers; R F Gesteland
Journal:  Proc Natl Acad Sci U S A       Date:  1979-01       Impact factor: 11.205

5.  Appearance of beta globin synthesis in erythroid cells of Ferrara beta -o-thalassaemic patients following blood transfusion.

Authors:  F Conconi; L Del Senno; P Ferrarese; C Menini; L Borgatti; C Vullo; D Labie
Journal:  Nature       Date:  1975-03-20       Impact factor: 49.962

6.  Identification of amber and ochre mutants of the human virus Ad2+ND1.

Authors:  R F Gesteland; N Wills; J B Lewis; T Grodzicker
Journal:  Proc Natl Acad Sci U S A       Date:  1977-10       Impact factor: 11.205

7.  Translation of MuLV and MSV RNAs in nuclease-treated reticulocyte extracts: enhancement of the gag-pol polypeptide with yeast suppressor tRNA.

Authors:  L Philipson; P Andersson; U Olshevsky; R Weinberg; D Baltimore; R Gesteland
Journal:  Cell       Date:  1978-01       Impact factor: 41.582

8.  Presence of gene for beta globin in homozygous beta0 thalassaemia.

Authors:  P Tolstoshev; J Mitchell; G Lanyon; R Williamson; S Ottolenghi; P Comi; B Giglioni; G Masera; B Modell; D J Weatherall; J B Clegg
Journal:  Nature       Date:  1976-01-15       Impact factor: 49.962

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

Authors:  Y W Kan; J P Holland; A M Dozy; H E Varmus
Journal:  Proc Natl Acad Sci U S A       Date:  1975-12       Impact factor: 11.205

10.  Relative numbers of human globin genes assayed with purified alpha and beta complementary human DNA.

Authors:  F Ramirez; C Natta; J V O'Donnell; V Canale; G Bailey; T Sanguensermsri; G M Maniatis; P A Marks; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1975-04       Impact factor: 11.205
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  103 in total

1.  Splicing and 3' end formation in the definition of nonsense-mediated decay-competent human beta-globin mRNPs.

Authors:  G Neu-Yilik; N H Gehring; R Thermann; U Frede; M W Hentze; A E Kulozik
Journal:  EMBO J       Date:  2001-02-01       Impact factor: 11.598

2.  2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problem.

Authors:  David Weatherall
Journal:  Am J Hum Genet       Date:  2004-03       Impact factor: 11.025

3.  Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.

Authors:  B Knebelmann; L Boussin; D Guerrier; L Legeai; A Kahn; N Josso; J Y Picard
Journal:  Proc Natl Acad Sci U S A       Date:  1991-05-01       Impact factor: 11.205

4.  A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.

Authors:  Pablo Cingolani; Adrian Platts; Le Lily Wang; Melissa Coon; Tung Nguyen; Luan Wang; Susan J Land; Xiangyi Lu; Douglas M Ruden
Journal:  Fly (Austin)       Date:  2012 Apr-Jun       Impact factor: 2.160

5.  The molecular basis of thalassemias.

Authors:  S Fucharoen; P Winichagoon
Journal:  Indian J Pediatr       Date:  1989 Nov-Dec       Impact factor: 1.967

Review 6.  Nonsense-mediated RNA decay regulation by cellular stress: implications for tumorigenesis.

Authors:  Lawrence B Gardner
Journal:  Mol Cancer Res       Date:  2010-02-23       Impact factor: 5.852

7.  A novel frameshift mutation (+G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values.

Authors:  Q-H Mo; X-R Li; C-F Li; Y-L He; X-M Xu
Journal:  J Clin Pathol       Date:  2005-09       Impact factor: 3.411

8.  Adenomatous colonic polyposis: to lump or to split?

Authors:  R W Erbe
Journal:  West J Med       Date:  1980-06

9.  Nonsense mutation causing steroid 21-hydroxylase deficiency.

Authors:  H Globerman; M Amor; K L Parker; M I New; P C White
Journal:  J Clin Invest       Date:  1988-07       Impact factor: 14.808

10.  Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Authors:  N Gregersen; V Winter; S Lyonnet; J M Saudubray; U Wendel; T G Jensen; B S Andresen; S Kølvraa; W Lehnert; L Bolund
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982
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