To gain a clearer picture of health and disease, scientists
have now provided an independent reference for all human variation by looking
through the evolutionary lens of our nearest relatives.
By
observing evolution's "greatest hits" (and misses) and the history of
the major themes and patterns of genome conservation (and divergence) across
many species, scientists can predict probable mutations that will be found
among people and the fate of human variation.
The
research team relied on an evolutionary tree that included 46 vertebrate
species spanning over 500 million years of life on Earth to predict the
evolutionary probability (EP) of each possibility at each position of our
genome. They applied their new method on all protein-coding genes in the human
genome (more than 10 million positions). Consistent with the knowledge that
most mutations are harmful, they found very low EPs (lower than 0.05) for a
vast majority of potential mutations (94.4 percent).
Next, they
produced a complete evolutionary catalog of all human protein variation, or
evolutionary variome, that can be used to better understand human diseases and
adaptations. And, it can be directly applied to the genomes of any other
species.
We think that
the fascinating part of the story is that once we know what our ancient
evolutionary history predicts, then we can compare this expectation to what we
observe in human populations today.
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