Literature DB >> 2137340

Evidence for alternative RNA splicing and possible alternative promoters in the human muscle phosphofructokinase gene at the 5' untranslated region.

H Nakajima1, T Yamasaki, T Noguchi, T Tanaka, N Kono, S Tarui.   

Abstract

Three mRNA species for human muscle phophofructokinase containing heterogeneous 5' untranslated sequences were identified through cDNA cloning. Type A mRNA was essentially the same as that reported previously (Nakajima, H., et al. (1987) FEBS Lett. 223, 113). Type B mRNA was considered to be the major gene product, which contained an extra non-coding sequence within the 5' untranslated region of type A mRNA. Amplification of mRNA by polymerase chain reaction revealed that types A and B mRNAs shared a common precursor RNA, and were alternatively spliced. Type C mRNA, homologous to the cDNA sequence from a placenta library (Sharma, P. M. et al., (1989) Gene 77, 177), was considered to be under the control of an alternative promotor.

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Year:  1990        PMID: 2137340     DOI: 10.1016/0006-291x(90)90856-i

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  9 in total

1.  Alteration of the levels of the M-type 6-phosphofructo-1-kinase mRNA isoforms during neonatal maturation of heart, brain and muscle.

Authors:  Y Mhaskar; G Armour; G Dunaway
Journal:  Mol Cell Biochem       Date:  2000-11       Impact factor: 3.396

2.  Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

Authors:  R C Nichols; O Rudolphi; B Ek; R Exelbert; P H Plotz; N Raben
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Complex pattern of alternative splicing generates unusual diversity in the leader sequence of the chicken link protein mRNA.

Authors:  F Deák; E Barta; S Mestric; M Biesold; I Kiss
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

4.  Novel clustering of Sp1 transcription factor binding sites at the transcription initiation site of the human muscle phosphofructokinase P1 promoter.

Authors:  J L Johnson; A McLachlan
Journal:  Nucleic Acids Res       Date:  1994-11-25       Impact factor: 16.971

5.  Expression of mouse phosphofructokinase-M gene alternative transcripts: evidence for the conserved two-promoter system.

Authors:  H Nakajima; T Noguchi; T Hamaguchi; K Tomita; T Hanafusa; N Kono; T Tanaka; M Kuwajima; Y Matsuzawa
Journal:  Biochem J       Date:  1994-10-15       Impact factor: 3.857

6.  Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Authors:  O Vasconcelos; K Sivakumar; M C Dalakas; M Quezado; J Nagle; M Leon-Monzon; M Dubnick; D C Gajdusek; L G Goldfarb
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-24       Impact factor: 11.205

7.  Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Authors:  J B Sherman; N Raben; C Nicastri; Z Argov; H Nakajima; E M Adams; C M Eng; T M Cowan; P H Plotz
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

8.  Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

Authors:  N Raben; R Exelbert; R Spiegel; J B Sherman; H Nakajima; P Plotz; J Heinisch
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.

Authors:  S Tsujino; S Servidei; P Tonin; S Shanske; G Azan; S DiMauro
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

  9 in total

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