Genomic structural variations distinguishing archaic and modern humans are associated with neurodevelopment.

IF 4.5 2区综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES

iScience Pub Date : 2026-10-01 eCollection Date: 2026-10-16 DOI:10.1016/j.isci.2026.117741

Shiyu Zha, Cheng Li, Chao Zhang

引用次数: 0

Abstract

Understanding the divergence in neurodevelopment between extinct archaic hominins and modern humans is a central goal in evolutionary biology. Structural variants (SVs) are key genomic drivers of phenotypic change. Here, we identified a set of SVs present in archaic humans by screening fixed SV events from diverse non-human primate (NHP) lineages, termed archaic hominin structural variants (AHSVs). AHSVs are significantly enriched in genes governing brain development and function, many of which are implicated in neuropsychiatric disorders. We found that several AHSVs overlap with brain cis-regulatory elements (CREs). Furthermore, in three neural-related genes (PDE10A, RAPGEF4, and DCTN4), modern human-specific chromatin loop anchors coincide with deletions shared by archaic hominins, suggesting that AHSVs may have influenced three-dimensional chromatin architecture. Overall, this study expands our understanding of the adaptive evolution of the modern human brain.

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区分古人类和现代人的基因组结构变异与神经发育有关。

了解已经灭绝的古人类和现代人在神经发育方面的差异是进化生物学的一个中心目标。结构变异（SVs）是表型变化的关键基因组驱动因素。在这里，我们通过筛选来自不同非人灵长类（NHP）谱系的固定SV事件，确定了一组存在于古人类中的SV，称为古人类结构变异（AHSVs）。AHSVs在控制大脑发育和功能的基因中显著富集，其中许多与神经精神疾病有关。我们发现一些AHSVs与脑顺式调控元件（CREs）重叠。此外，在三个神经相关基因（PDE10A、RAPGEF4和DCTN4）中，现代人特有的染色质环锚点与古人类共有的缺失相吻合，这表明AHSVs可能影响了三维染色质结构。总的来说，这项研究扩展了我们对现代人类大脑适应性进化的理解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

iScience Multidisciplinary-Multidisciplinary

CiteScore

7.20

自引率

1.70%

发文量

1972

审稿时长

6 weeks

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