chr17 · 17q21 · 240 nt · 2006
HAR13
Anomaly
5.88
Genes
MAPT
Length
240 nt
What it is
HAR13 sits in a region of the genome that has been copied and rearranged. Extra copies give evolution spare parts. The protein genes in this neighborhood include ones used in neurons; the HAR is about how those parts are deployed.
Why it matters
Copy-number context for an accelerated enhancer.
Operator load
01 · ΔE
Enhancer activity
These stretches of DNA do not code for proteins. They act as volume knobs — turning nearby brain-development genes up or down at the right moment.
04 · D
Copy-number expansion
Sometimes the switch is duplicated. Extra copies give evolution more material to experiment with — one copy keeps the old job, another can specialize.
06 · P
Population spread
Once a change is useful, it spreads. Many HAR variants rose quickly in ancestral humans and are now nearly fixed across living populations.
Pollard et al. 2006