Catalog

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