Gene Structure and Regulatory Mechanism of Gene Expression

  • Katsuji Hori


The genomes of higher eukaryote are much bigger than those of bacteria. It is estimated that the human haploid genome is composed of about 3 × 109 nucleotides with a total length of 1,000 mm, and that only 10% of it is utilized as coding and regulatory sequences. The largest elucidated gene in a human chromosome contains as many as 2 × 106 nucleotides pairs (dystrophin gene, the gene for Duchenne and Becker muscular dystrophy diseases), and genes of more than 100,000 nucleotides pairs in length are not unusual [1]. Assuming that a gene is 3–6 × 104 nucleotides in length, which includes the coding region and the non-coding and flanking sequences, this estimate would predict that there are about 5–10 × 104 human genes coding for different proteins (Table 1). To date, more than 1,600 human genes have been mapped to specific sites on 24 different nuclear chromosomes [2]. Thus, the number of genes mapped corresponds to approximately 3% of all human genes in a haploid genome. The extrachromosomal 54 loci have been mapped on the mitochondrial DNA. Many genes in human genomes belong to multigene families, which can be either dispersed in different chromosomes or clustered into a single or tandemly repeated array. Intensive studies have indicated that genomic organization, gene structure, gene expression, and its regulation in eukaryotic cell would be more complex than that in prokaryotes, and have shown that higher eukaryote genomes have some unexpected features: interrupted structure, pseudogenes which are an inactive but stable component of the genome derived by mutation of an ancestral active gene, and genome rearrangement which occurs during B- and T-lymphoid cell differentiation. In this article, I describe the regulatory mechanism of eukaryotic gene expression with special reference to the transcriptional regulatory sequences (cis-elements) on a gene, general and tissue- specific transcription factors, and their interaction in activating gene expression.


Responsive Element Zinc Finger Motif Growth Hormone Gene Universal Activator Eukaryotic Gene Expression 
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Copyright information

© Springer-Verlag Tokyo 1991

Authors and Affiliations

  • Katsuji Hori
    • 1
  1. 1.Department of BiochemistrySaga Medical SchoolSaga, 849Japan

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