chr2 · 2q14 · 268 nt · 2006
HAR7
Anomaly
5.71
Genes
GLI2
Length
268 nt
What it is
HAR7's substitutions tend to cancel each other's damage and come with a 3D contact shift. That is the signature of a circuit being retuned, not a circuit being broken.
Why it matters
Compensatory + topology signature.
Operator load
02 · C
Compensatory substitution
When one letter in the sequence changes, another often changes to keep the whole switch working. Evolution rewired the circuit without breaking it.
03 · T
Three-dimensional rewiring
The genome folds in 3D. Human-specific changes can re-route which switches sit next to which genes, even if the letters look similar in a straight line.
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