dorsal/arxiv
View SchemaFunctional Bias and Spatial Organization of Genes in Mutational Hot and Cold Regions in the Human Genome
| Authors | Jeffrey H. Chuang, Hao Li |
|---|---|
| Categories | |
| ArXiv ID | q-bio/0402006 |
| URL | https://arxiv.org/abs/q-bio/0402006 |
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 extra-cellular 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 recombination, which contribute significantly to these biases for certain categories of hot genes. Overall, our results show that genes are located non-randomly with respect to hot and cold regions, offering the possibility that selection acts at the level of gene location in the human genome.
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"abstract": "The neutral mutation rate is known to vary widely along human chromosomes,\nleading to mutational hot and cold regions. We provide evidence that categories\nof functionally-related genes reside preferentially in mutationally hot or cold\nregions, the size of which we have measured. Genes in hot regions are biased\ntoward extra-cellular communication (surface receptors, cell adhesion, immune\nresponse, etc.) while those in cold regions are biased toward essential\ncellular processes (gene regulation, RNA processing, protein modification,\netc.). From a selective perspective, this organization of genes could minimize\nthe mutational load on genes that need to be conserved and allow fast evolution\nfor genes that must frequently adapt. We also analyze the effect of gene\nduplication and chromosomal recombination, which contribute significantly to\nthese biases for certain categories of hot genes. Overall, our results show\nthat genes are located non-randomly with respect to hot and cold regions,\noffering the possibility that selection acts at the level of gene location in\nthe human genome.",
"arxiv_id": "q-bio/0402006",
"authors": [
"Jeffrey H. Chuang",
"Hao Li"
],
"categories": [
"q-bio.GN",
"q-bio.PE"
],
"title": "Functional Bias and Spatial Organization of Genes in Mutational Hot and Cold Regions in the Human Genome",
"url": "https://arxiv.org/abs/q-bio/0402006"
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