“The study began with the discovery of an unexpected similarity
between an "anonymous" piece of the human genome sequence
and some previously studied genes known to power muscle contraction.
The surprise came when a small, inactivating deletion was found in this
sequence, perhaps explaining why the computer programs had previously
passed by the area without recognizing it as a gene.”
—
“ Additional studies showed that versions of this gene in non-human
primates bear the imprint of a critically important function for the
animal, which implies that the mutation afflicts all humans, in one
sense of the word, with the same inherited muscle "disease."
The intriguing questions became, what is the "disease" and
why is it so common?”
—
“At the tissue level, the researchers found that macaque chewing
and biting muscles are nearly ten times as large as in humans, which
correlates with the fact that MYH16 protein is made in macaques and
not in humans.”
—
“From this the investigators postulated that the first early hominids
born with two copies of the mutated MYH16 gene would show many effects
from this single mutation--most notably a reduction in size and contractile
force of the jaw-closing muscles, some of which exert tremendous stress
across and/or cause deposition of additional bone atop growth zones
of the braincase.”
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