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Gene Distribution in the Human Genome

Structural Determination Techniques (DNA, RNA and Protein)

  1. Yujing Zeng1,
  2. Javier Garcia-Frias1,
  3. Adam G. Marsh2

Published Online: 15 SEP 2006

DOI: 10.1002/3527600906.mcb.200300034

Reviews in Cell Biology and Molecular Medicine

Reviews in Cell Biology and Molecular Medicine

How to Cite

Zeng, Y., Garcia-Frias, J. and Marsh, A. G. 2006. Gene Distribution in the Human Genome. Reviews in Cell Biology and Molecular Medicine. .

Author Information

  1. 1

    University of Delaware, Department of Electrical and Computer Engineering, Newark, DE, USA

  2. 2

    University of Delaware, Department of Marine Studies, Lewes, DE, USA

Publication History

  1. Published Online: 15 SEP 2006


The human genome encodes the information about the development, physiology, and evolution of our own species. Among the whole DNA stretch with more than 3000 million nucleotides, the most interesting portions are those composed of genes, the DNA fragments that code for a defined biochemical function, such as the production of a particular protein. It is believed that genes are responsible for the major biological functions of the genome, and knowledge about them and their encoded proteins is crucial for basic biology, biomedical research, biotechnology, and health care.

In this contribution, we provide an overview of the ongoing research on the gene distribution in the human genome. It has been known for a long time that the distribution of protein-coding genes among human chromosomes is extremely uneven. DNA fragments with different gene densities show different compositional properties, which are believed to be correlated with gene composition, function, and evolution. Around 98% of the human genome does not code directly for proteins and therefore was once dismissed as “junk DNA.” However, many studies have shown that these “junk” sections contain many important features essential for the biological function of a genome. The challenge to understanding how genomes “work” involves more than just the identification of protein-coding segments. We must understand the mechanisms by which all the components of a genome interact to produce a functional cellular system.


  • Chromosomal Bands;
  • CpG Islands;
  • EST (Expressed-Sequence Tag);
  • Exon;
  • GC Content;
  • Intron;
  • Isochores;
  • Promoter;
  • Transcript;
  • Splicing