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AAV Deployment of Enhancer-Based Expression Constructs In Vivo in Mouse Brain
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Published on: March 31, 2022

Human-specific gain of function in a developmental enhancer.

Shyam Prabhakar1, Axel Visel, Jennifer A Akiyama

  • 1Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA.

Science (New York, N.Y.)
|September 6, 2008
PubMed
Summary
This summary is machine-generated.

Human gene regulation changes aided evolution, but direct proof was missing. A human-specific DNA sequence (HACNS1) in mice enhanced limb development, particularly the wrist and thumb, offering key evolutionary insights.

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Last Updated: Jul 2, 2026

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Dissection of Enhancer Function Using Multiplex CRISPR-based Enhancer Interference in Cell Lines

Published on: June 2, 2018

Area of Science:

  • Evolutionary biology
  • Developmental biology
  • Genetics

Background:

  • Gene regulation changes are hypothesized to drive human evolutionary development.
  • In vivo evidence for human-specific developmental regulatory functions has been limited.

Purpose of the Study:

  • To investigate the in vivo function of a rapidly evolved human DNA sequence, HACNS1, in regulating gene expression during development.
  • To determine if human-specific genetic changes in HACNS1 confer unique limb expression patterns.

Main Methods:

  • Utilized transgenic mice to study the function of the human HACNS1 sequence.
  • Compared gene expression patterns of human HACNS1 with orthologous sequences from chimpanzee and rhesus macaque.
  • Created synthetic enhancers with human-specific substitutions and ancestral reverted sequences to pinpoint functional modules.

Main Results:

  • Human HACNS1 acted as a gene expression enhancer with a distinct limb expression domain in mice, including the wrist and thumb.
  • This human-specific limb expression pattern was observed across two developmental stages.
  • Thirteen specific substitutions within an 81-base pair module of HACNS1 were identified as sufficient for conferring the human-specific limb expression domain.

Conclusions:

  • The rapidly evolved human HACNS1 sequence demonstrates a gain of function in regulating limb development in vivo.
  • Specific human-derived genetic substitutions within HACNS1 are responsible for its unique role in human limb development.
  • This study provides in vivo evidence for the role of regulatory element evolution in human developmental divergence.