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Breakthrough Tracker record

A functional atlas maps human-specific skeletal gene regulation

Researchers assayed 561,410 human-derived substitutions in candidate regulatory elements in cartilage-forming cells and identified 15,077 loci with human-specific activity, revealing broad rewiring of extracellular-matrix and skeletal-development programs.

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Stable ID
biology-human-skeletal-regulatory-evolution-atlas-2026
Revision
biology-human-skeletal-regulatory-evolution-atlas-2026.v1
Field
Biology · Human evolution, functional genomics and skeletal biology
Evidence
Tier 1 · Peer reviewed: Yes
Record state
Current · Peer-reviewed result
Last checked

AI role

No substantive AI role was disclosed in the inspected journal and PubMed records.

Record details

Problem or result
Genome-scale functional mapping of human-specific skeletal regulatory substitutions
Authors
Yizhi Yan, Nadav Mishol, Katharina Lange, Zicong Zhang and collaborators led by David Gokhman
Institutions
Kyoto University; McGill University; Weizmann Institute; Technion; EMBL Barcelona; Pompeu Fabra; CRG; CNAG and collaborators
Result date
Published September 23, 2026

Why it matters

The study links large-scale regulatory change with the evolution of human skeletal traits and supplies a reusable functional map rather than relying only on comparative sequence annotation.

Limits

The trait and disease connections are associations, not proof that any one regulatory substitution caused a human anatomical feature or osteoarthritis. Hybrid-cell and in-vitro systems do not reproduce whole-organism development.

Sources

  1. Primary: Nature, human skeletal regulatory evolution atlas
  2. Primary: PubMed record for the skeletal regulatory atlas
  3. Institutional: Institutional release distributed by EurekAlert

Correction and revision history

  1. 2026-10-02 — Added after primary-source, scope, status, AI-role and limitation review.

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