4.0 Article

Genetic load and biological changes to extant humans

Journal

JOURNAL OF BIOSOCIAL SCIENCE
Volume 53, Issue 4, Pages 639-642

Publisher

CAMBRIDGE UNIV PRESS
DOI: 10.1017/S0021932020000413

Keywords

Evolution; Genetic mutations; Relaxed selection

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Current humans are increasing their genetic load due to factors like improved living conditions and medical advancements. This has led to a decrease in the transmission of harmful genes to the next generation, affecting the overall health of the human genome.
Extant humans are currently increasing their genetic load, which is informing present and future human microevolution. This has been a gradual process that has been rising over the last centuries as a consequence of improved sanitation, nutritional improvements, advancements in microbiology and medical interventions, which have relaxed natural selection. Moreover, a reduction in infant and child mortality and changing societal attitudes towards fertility have led to a decrease in total fertility rates (TFRs) since the 19th century. Generally speaking, decreases in differential fertility and mortality have meant that there is less opportunity for natural selection to eliminate deleterious mutations from the human gene pool. It has been argued that the average human may carry similar to 250-300 mutations that are mostly deleterious, as well as several hundred less-deleterious variants. These deleterious alleles in extant humans mean that our fitness is being constrained. While such alleles are viewed as reducing human fitness, they may also have had an adaptive function in the past, such as assisting in genetic complexity, sexual recombination and diploidy. Saying this, our current knowledge on these fitness compromising alleles is still lacking.

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