chr7 · 7q11.22 · 320 nt · 2013

AUTS2 HARs

HAR31 cluster

What it is

AUTS2 helps neurons migrate and connect. People with disruptions in this gene can have developmental delay or autism-spectrum traits — but the HARs nearby are not mutations in a patient. They are species-level changes in how the gene is regulated. That is a population story, not a diagnosis.

Why it matters

Neurodevelopmental gene with human-specific cis architecture.

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.

• 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.

Oksenberg & Ahituv 2013 · Pollard catalog