An Upper Limit on the Functional Fraction of the Human Genome
Open Access
- 1 July 2017
- journal article
- research article
- Published by Oxford University Press (OUP) in Genome Biology and Evolution
- Vol. 9 (7), 1880-1885
- https://doi.org/10.1093/gbe/evx121
Abstract
For the human population to maintain a constant size from generation to generation, an increase in fertility must compensate for the reduction in the mean fitness of the population caused, among others, by deleterious mutations. The required increase in fertility due to this mutational load depends on the number of sites in the genome that are functional, the mutation rate, and the fraction of deleterious mutations among all mutations in functional regions. These dependencies and the fact that there exists a maximum tolerable replacement level fertility can be used to put an upper limit on the fraction of the human genome that can be functional. Mutational load considerations lead to the conclusion that the functional fraction within the human genome cannot exceed 25%, and is probably considerably lower.Keywords
This publication has 53 references indexed in Scilit:
- On the Immortality of Television Sets: "Function" in the Human Genome According to the Evolution-Free Gospel of ENCODEGenome Biology and Evolution, 2013
- Estimating the human mutation rate using autozygosity in a founder populationNature Genetics, 2012
- An integrated encyclopedia of DNA elements in the human genomeNature, 2012
- Rate of de novo mutations and the importance of father’s age to disease riskNature, 2012
- Rates and Fitness Consequences of New Mutations in HumansGenetics, 2012
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome SequencingScience, 2010
- Spontaneous Mutation Accumulation Studies in Evolutionary GeneticsAnnual Review of Ecology, Evolution, and Systematics, 2009
- Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting PedigreeCurrent Biology, 2009
- The distribution of fitness effects of new mutationsNature Reviews Genetics, 2007
- The Distribution of Fitness Effects of New Deleterious Amino Acid Mutations in HumansGenetics, 2006