chr2 · 2q14.2 · 546 nt · 2008
HACNS1
HAR2
Anomaly
6.91
Genes
GBX2, AGAP1
Length
546 nt
What it is
HACNS1 is a conserved noncoding enhancer that gained 16 human-specific letter changes. In reporter experiments it drives strong activity in the developing limb and hand. The nearby protein genes themselves are not rewritten — the schedule and location of their use is.
Why it matters
Classic limb enhancer; experimental reporter validation.
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.
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.
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.
Prabhakar et al. Science 2008