Mutation and human exceptionalism: Our future genetic load

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Although the human germline mutation rate is higher than that in any other well-studied species, the rate is not exceptional once the effective genome size and effective population size are taken into consideration. Human somatic mutation rates are substantially elevated above those in the germline, but this is also seen in other species. What is exceptional about humans is the recent detachment from the challenges of the natural environment and the ability to modify phenotypic traits in ways that mitigate the fitness effects of mutations, e.g., precision and personalized medicine. This results in a relaxation of selection against mildly deleterious mutations, including those magnifying the mutation rate itself. The long-term consequence of such effects is an expected genetic deterioration in the baseline human condition, potentially measurable on the timescale of a few generations in westernized societies, and because the brain is a particularly large mutational target, this is of particular concern. Ultimately, the price will have to be covered by further investment in various forms of medical intervention. Resolving the uncertainties of the magnitude and timescale of these effects will require the establishment of stable, standardized, multigenerational measurement procedures for various human traits.

Original languageEnglish (US)
Pages (from-to)869-875
Number of pages7
JournalGenetics
Volume202
Issue number3
DOIs
StatePublished - Mar 1 2016
Externally publishedYes

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Genetic Load
Mutation Rate
Mutation
Precision Medicine
Genome Size
Germ-Line Mutation
Population Density
Uncertainty
Brain

ASJC Scopus subject areas

  • Genetics

Cite this

Mutation and human exceptionalism : Our future genetic load. / Lynch, Michael.

In: Genetics, Vol. 202, No. 3, 01.03.2016, p. 869-875.

Research output: Contribution to journalArticle

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