A genome by itself is like a recipe without a chef full of
important information, but in need of interpretation. So,
even though we have sequenced genomes of our nearest extinct
relatives the Neanderthals and the Denisovans there remain
many unknowns regarding how differences in our genomes
actually lead to differences in physical traits. Researcher
have the naked DNA sequence, and can really do is stare at
it and hope one day able to understand what it means.
Motivated by such hopes, a team of researchers have devised
a new method to harvest more information from the genomes of
archaic humans to potentially reveal the physical
consequences of genomic differences between us and them. The
process by which genes are activated or silenced, which
determines when, how and where DNA's instructions are
followed. Gene expression tends to be the genetic detail
that determines physical differences between closely related
groups. Starting with 14,042 genetic variants unique to
modern humans, the researchers found 407 that specifically
contribute to differences in gene expression between modern
and archaic humans. In further analysis, they determined
that the differences were more likely to be associated with
the vocal tract and the cerebellum, which is the part of our
brain that receives sensory information and controls
voluntary movement, including walking, coordination, balance
and speech. With such a large number of variants to examine,
the researchers relied on a technique called a "massively
parallel reporter assay" to test which sequences actually
affect gene regulation. That virus is then put into a cell.
If that variant affects gene expression, the reporter gene
produces a barcoded molecule that identifies what DNA
sequence it came from. The barcode allows the researchers to
scan the products of a large number of variants at once.
Essentially, the whole process imitates an abridged version
of how each variant would play out in a cell in real life
and reports the results. In total, the researchers found 407
sequences that represented a change in expression in modern
humans compared to our predecessors. Among that list, genes
that affect the cerebellum and genes that affect the voice
box, pharynx, larynx and vocal cords seem to be
overrepresented. This would suggest some kind of rapid
evolution of those organs or some kind of a path that is
specific to modern humans. Even with those unknowns, this
technique by itself is a significant advance for
evolutionary research. |