Literature DB >> 2920213

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

C Wong1, S E Antonarakis, S C Goff, S H Orkin, B G Forget, D G Nathan, P J Giardina, H H Kazazian.   

Abstract

We have identified two novel RNA-splicing mutations affecting a critical nucleotide (nt) in the acceptor consensus sequences at both the IVS-1/exon 2 and IVS-2/exon 3 junctions of the human beta-globin gene. Both mutations are single nt substitutions, T to G and C to A, at position -3 adjacent to the invariant AG dinucleotide. For the IVS-2/exon 3 mutation abnormal splicing into the cryptic splice site at IVS-2 nt 579 is documented. Identification of these two mutations provides further support for the importance of the location of specific nucleotides within the consensus sequences in splice site selection and RNA processing.

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Year:  1989        PMID： 2920213

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  12 in total

1.  The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences.

Authors:  M Krawczak; J Reiss; D N Cooper
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Authors:  H Guillermit; P Fanen; C Ferec
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Alternative mRNA splice variants of the rat ClC-2 chloride channel gene are expressed in lung: genomic sequence and organization of ClC-2.

Authors:  S Chu; P L Zeitlin
Journal:  Nucleic Acids Res       Date:  1997-10-15       Impact factor: 16.971

4.  Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  P W Speiser; J Dupont; D Zhu; J Serrat; M Buegeleisen; M T Tusie-Luna; M Lesser; M I New; P C White
Journal:  J Clin Invest       Date:  1992-08       Impact factor: 14.808

5.  Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

Authors:  C C Brooks; N Buist; J Tuerck; D R Tolan
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

6.  A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

Authors:  T Ieiri; P Cochaux; H M Targovnik; M Suzuki; S Shimoda; J Perret; G Vassart
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

7.  Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene.

Authors:  T Bienvenu; D Hubert; N Fonknechten; D Dusser; J C Kaplan; C Beldjord
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

8.  Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3.

Authors:  D H Llewellyn; G A Scobie; A J Urquhart; S D Whatley; A G Roberts; P R Harrison; G H Elder
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

9.  Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Authors:  Dagan Jenkins; Gareth Baynam; Luc De Catte; Nursel Elcioglu; Michael T Gabbett; Louanne Hudgins; Jane A Hurst; Fernanda Sarquis Jehee; Christine Oley; Andrew O M Wilkie
Journal:  Hum Mutat       Date:  2011-02-08       Impact factor: 4.878

10.  Interplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouse.

Authors:  Massimo Buvoli; Ada Buvoli; Leslie A Leinwand
Journal:  PLoS One       Date:  2007-05-09       Impact factor: 3.240
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