RGD Reference Report - Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. - Rat Genome Database

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Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system.

Authors: Yamasaki, T  Nakajima, H  Kono, N  Hotta, K  Yamada, K  Imai, E  Kuwajima, M  Noguchi, T  Tanaka, T  Tarui, S 
Citation: Yamasaki T, etal., Gene 1991 Aug 15;104(2):277-82.
RGD ID: 633570
Pubmed: PMID:1833270   (View Abstract at PubMed)

We have recently shown that three types (A,B, and C) of mRNA species are transcribed from a single gene encoding human muscle phosphofructokinase (hPFK-M) through alternative splicing [Nakajima et al., Biochem. Biophys. Res. Commun. 166 (1990) 637-641]. To determine its complete structure and elucidate the mechanism of alternative RNA splicing, we isolated the hPFK-M gene, which spans about 30 kb, and contains 24 exons. Transcription start points were observed for both exon 1 and exon 2 by S1 nuclease protection assay and primer extension. Motifs of an Sp1-binding site were observed in the upstream region of exon 1 (promoter 1). A TATA-box-like sequence and a CAAT-box-like sequence were identified in the upstream region of exon 2 (promoter 2). Reporter assay revealed that the promoter 1 region was functional both in HeLa cells and myoblastic clonal cells, and that the promoter 2 region was active only in myoblastic cells. Motifs of M-CAT known as a muscle-specific enhancer, were observed in the promoter 2 region. These results indicated that the hPFK-M gene contains at least two promoter regions, facilitating the expression of the heterogeneous gene transcripts in a cell-type-specific manner.

Objects referenced in this article
Gene Pfkm phosphofructokinase, muscle Rattus norvegicus

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