Human Genome. Structural Aspects

  • Guillermo Lamolle
  • Héctor Musto
Keywords: Human Genome, Isochores, Compositional Correlations, GC Content, Evolution

Abstract

The human genome, as the genome of all mammals and birds, are mosaic of isochores, which are
very long streches (>> 100 kb) of DNA that are homogeneous in base composition. Isochores can be
divided in a small number of families that cover a broad range of GC levels (GC is the molar ratio of
guanine+cytosine in DNA). In the human genome, we fi nd fi ve families, which are (going from GCpoor to GC- rich) L1, L2, H1, H2 and H3. This organization has important consequences, as is the case of the concentration of genes, their regulation, transcription levels, rate of recombination, time of replication, etc. Furthermore, the existence of isochores has as a consequence the so called “compositional correlations”, which means that as long as sequences are placed in diff erent families of isochores, all
of their regions (exons and their three codon positions, introns, etc.) change their GC content, and as
a consequence, both codon and amino acids usage change in each isochore family. Finally, we discuss
the origin of isochores within an evolutioary framework.

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Published
2021-11-26
How to Cite
Lamolle, G., & Musto, H. (2021). Human Genome. Structural Aspects. Anales De La Facultad De Medicina, 5(2). https://doi.org/10.25184/anfamed2018v5n2a10