Literature DB >> 3387213

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.

C Beldjord1, C Lapoumeroulie, J Pagnier, M Benabadji, R Krishnamoorthy, D Labie, A Bank.   

Abstract

An adult Algerian patient with homozygous beta thalassemia was found to have a unique beta thalassemia gene. Cloning and sequencing revealed that the only abnormality present in this beta gene is a transversion in the polypyrimidine stretch at the 3' end of the large intervening sequence (IVS 2) six bases 5' to the consensus AG dinucleotide sequence (CCGCCCACAG instead of CCTCCCACAG). In addition, digestion of the cloned fragment by the enzyme Mnl I demonstrates the disappearance of a restriction site as expected. This is the first example of a defect in the consensus sequence at the 3' end of an IVS leading to a thalassemia phenotype presumably due to decreased splicing.

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Year:  1988        PMID： 3387213      PMCID： PMC336707          DOI： 10.1093/nar/16.11.4927

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


  11 in total

Review 1.  Splicing of messenger RNA precursors.

Authors:  R A Padgett; P J Grabowski; M M Konarska; S Seiler; P A Sharp
Journal:  Annu Rev Biochem       Date:  1986       Impact factor: 23.643

Review 2.  Pre-mRNA splicing.

Authors:  M R Green
Journal:  Annu Rev Genet       Date:  1986       Impact factor: 16.830

Review 3.  DNA polymorphism and molecular pathology of the human globin gene clusters.

Authors:  S E Antonarakis; H H Kazazian; S H Orkin
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

4.  Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors:  S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal:  Nature       Date:  1982-04-15       Impact factor: 49.962

5.  New M13 vectors for cloning.

Authors:  J Messing
Journal:  Methods Enzymol       Date:  1983       Impact factor: 1.600

6.  A catalogue of splice junction sequences.

Authors:  S M Mount
Journal:  Nucleic Acids Res       Date:  1982-01-22       Impact factor: 16.971

7.  Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site.

Authors:  G F Atweh; N P Anagnou; J Shearin; B G Forget; R E Kaufman
Journal:  Nucleic Acids Res       Date:  1985-02-11       Impact factor: 16.971

8.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

9.  Four new haplotypes observed in Algerian beta-thalassemia patients.

Authors:  C Beldjord; C Lapouméroulie; M L Baird; R Girot; L Adjrad; G Lenoir; M Benabadji; D Labie
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

Authors:  H H Kazazian; S H Orkin; S E Antonarakis; J P Sexton; C D Boehm; S C Goff; P G Waber
Journal:  EMBO J       Date:  1984-03       Impact factor: 11.598
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  7 in total

1.  Mutations in the regions of the Rous sarcoma virus 3' splice sites: implications for regulation of alternative splicing.

Authors:  S L Berberich; C M Stoltzfus
Journal:  J Virol       Date:  1991-05       Impact factor: 5.103

2.  DNA haplotype distribution in Algerian beta thalassaemia patients. An extended evaluation by family studies and representative molecular characterization.

Authors:  F Rouabhi; C Lapouméroulie; S Amselem; R Krishnamoorthy; L Adjrad; R Girot; P Chardin; M Benabdji; D Labie; C Beldjord
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

3.  X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Authors:  S W Knight; N S Heiss; T J Vulliamy; S Greschner; G Stavrides; G S Pai; G Lestringant; N Varma; P J Mason; I Dokal; A Poustka
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

Authors:  A C Muntau; P U Mayerhofer; B C Paton; S Kammerer; A A Roscher
Journal:  Am J Hum Genet       Date:  2000-08-24       Impact factor: 11.025

5.  A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction.

Authors:  P Sébillon; C Beldjord; J C Kaplan; E Brody; J Marie
Journal:  Nucleic Acids Res       Date:  1995-09-11       Impact factor: 16.971

6.  Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.

Authors:  C S Chu; B C Trapnell; J J Murtagh; J Moss; W Dalemans; S Jallat; A Mercenier; A Pavirani; J P Lecocq; G R Cutting
Journal:  EMBO J       Date:  1991-06       Impact factor: 11.598

7.  Two-exon skipping within MLPH is associated with coat color dilution in rabbits.

Authors:  Stefanie Lehner; Marion Gähle; Claudia Dierks; Ricarda Stelter; Jonathan Gerber; Ralph Brehm; Ottmar Distl
Journal:  PLoS One       Date:  2013-12-20       Impact factor: 3.240
  7 in total

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