Catalog

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