Functional bias and spatial organization of genes in mutational hot and cold regions in the human genome.

ABSTRACT: The neutral mutation rate is known to vary widely along human chromosomes, leading to mutational hot and cold regions. We provide evidence that categories of functionally related genes reside preferentially in mutationally hot or cold regions, the size of which we have measured. Genes in hot regions are biased toward extracellular communication (surface receptors, cell adhesion, immune response, etc.), while those in cold regions are biased toward essential cellular processes (gene regulation, RNA processing, protein modification, etc.). From a selective perspective, this organization of genes could minimize the mutational load on genes that need to be conserved and allow fast evolution for genes that must frequently adapt. We also analyze the effect of gene duplication and chromosomal rec

SUBMITTER: Chuang JH 

PROVIDER: S-EPMC340940 | biostudies-literature | 2004 Feb

REPOSITORIES: biostudies-literature