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Approximately 2% of the human genome codes for proteins and a slightly larger fraction is involved in gene regulation. But most of the rest of the genome has no known function. If the environment remains stable, the beneficial mutations will spread throughout the local population over many generations until it becomes a dominant trait.
Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations ...
Natural selection is the differential survival and reproduction of individuals due to differences in phenotype. It is a key mechanism of evolution, the change in the heritable traits characteristic of a population over generations. Charles Darwin popularised the term "natural selection", contrasting it with artificial selection, which is ...
A beneficial, or advantageous mutation increases the fitness of the organism. Examples are mutations that lead to antibiotic resistance in bacteria (which are beneficial for bacteria but usually not for humans). A neutral mutation has no harmful or beneficial effect on the organism.
The neutral theory assumes that most mutations that are not deleterious are neutral rather than beneficial. Because only a fraction of gametes are sampled in each generation of a species, the neutral theory suggests that a mutant allele can arise within a population and reach fixation by chance, rather than by selective advantage. [1]
Selective sweep. In genetics, a selective sweep is the process through which a new beneficial mutation that increases its frequency and becomes fixed (i.e., reaches a frequency of 1) in the population leads to the reduction or elimination of genetic variation among nucleotide sequences that are near the mutation.
Human genetics. Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Stabilizing selection is the most common form of nonlinear selection (non-directional) in humans. [13] There are few examples of genes with direct evidence of stabilizing selection in humans. However, most quantitative traits (height, birthweight, schizophrenia) are thought to be under stabilizing selection, due to their polygenicity and the ...