What makes humans unique is a question that is raised very often.
A study that looked at sequences that are highly conserved in chimpanzees, our
closest relatives, has revealed that there are 510 deletions of non-coding regions
in humans that are mainly related to hormone signaling and neural functions.
Transgenic analysis of a chimpanzee and a mouse to explore the function and
expression of deleted elements show that these deletions appear to correlate
with both loses and gains of traits that are unique to humans and also might
have played an important role in the evolution of Anatomically Modern Humans. Examples
mentioned include losses that led to tissue expansion, such as expansion of the
cerebral cortex and loss of penile spines. The study also reports that of these
deletions 88% are reported missing from the Neanderthal genome.
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