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These very rare variants are mutations that tend to do bad things to genes - they prevent a protein-coding gene from functioning by altering its sequence or affect the way in which is is regulated.
There is also an entropic cost involved in maintaining a regulatory system, stemming from random mutations that tend to destroy transcription factors and binding sites.
Although we have not mapped a causative variant in MEFV exon 2, we observed that this exon is enriched with rare mutations that tend to be transmitted to patients, indicating not only the allelic heterogeneity of that region but also its biological importance.
The different ED syndromes result from p63 mutations that tend to cluster at different locations (Rinne et al, 2006).
A balance between slippage events, that increase the purity of the repeat, and point mutations, that tend to eliminate perfect repeats, determines their length distribution.
At their simplest, mutation and selection in a static environment reflect the competing claims of stabilizing selection, which reduces genetic variation, and new mutations that tend to increase it.
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In contrast, the groEL515, groEL673, groEL173, and groEL (V190I) mutations result in mutant proteins that tend to prolong their interaction with the cochaperone partner.
On the contrary, asexual species are unable to purge deleterious mutations that irreversibly tend to accumulate (Muller 1964).
The final picture that delineates itself from this type of reasoning underlines the close relationship that ties sex and the need to cleanse obligatory diploid genomes off the recessive mutations that they tend to accumulate silently.
Second, heart enhancers are subject to a more frequent, or intense, positive selection, similar to that of genes encoding adaptive proteins where new mutations that develop tend to be fixed more frequently [ 19, 20].
Usually optimal health and reproduction coincide, but mutations that increase reproduction tend to spread, even if they decrease health and longevity.
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