Isochores, GC3 and mutation biases in the human genome

In this work we re-examined the hypothesis that the variation in GC content in the human genome is due to different regional mutational biases. For this purpose we inferred the mutational pattern by using mutation databases that are available for many genes associated with human genetic diseases. Th...

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Bibliographic Details
Published in:Gene 2002-10, Vol.300 (1-2), p.161-168
Main Authors: Alvarez-Valin, Fernando, Lamolle, Guillermo, Bernardi, Giorgio
Format: Article
Language:English
Subjects:
Base Composition
Codon - genetics
CpG Islands - genetics
Databases, Nucleic Acid
GC Rich Sequence - genetics
Genome, Human
Humans
Isochores - chemistry
Isochores - genetics
Mutation
Phenylalanine Hydroxylase - genetics
Tumor Suppressor Protein p53 - genetics
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Summary:In this work we re-examined the hypothesis that the variation in GC content in the human genome is due to different regional mutational biases. For this purpose we inferred the mutational pattern by using mutation databases that are available for many genes associated with human genetic diseases. The assumption of this approach is that such mutations reflect the actual frequency distribution of mutations as they arise in the population. Four classes of genes, classified according to their GC(3) level, were included in this study: GC(3)-poor genes (GC(3)
ISSN:0378-1119
DOI:10.1016/S0378-1119(02)01043-0