Kun Eucharist, Sohail Mashaal, Narasimhan Vagheesh M
Department of Integrative Biology, The University of Texas at Austin, Austin, TX, USA.
Centro de Ciencias Genómicas (CCG), Universidad Nacional Autónoma de México (UNAM), Cuernavaca, Mexico.
Cell Genom. 2025 Jan 8;5(1):100740. doi: 10.1016/j.xgen.2024.100740.
Humans exhibit distinct characteristics compared to our primate and ancient hominin ancestors. To investigate genomic bursts in the evolution of these traits, we use two complementary approaches to examine enrichment among genome-wide association study loci spanning diseases and AI-based image-derived brain, heart, and skeletal tissue phenotypes with genomic regions reflecting four evolutionary divergence points. These regions cover epigenetic differences among humans and rhesus macaques, human accelerated regions (HARs), ancient selective sweeps, and Neanderthal-introgressed alleles. Skeletal traits such as pelvic width and limb proportions showed enrichment in evolutionary annotations that mirror morphological changes in the primate fossil record. Additionally, we observe enrichment of loci associated with the longitudinal fasciculus in human-gained epigenetic elements since macaques, the visual cortex in HARs, and the thalamus proper in Neanderthal-introgressed alleles, implying that associated cognitive functions such as language processing, decision-making, sensory signaling, and motor control are enriched at different evolutionary depths.
与我们的灵长类和古代原始人类祖先相比，人类表现出独特的特征。为了研究这些特征进化过程中的基因组爆发，我们使用两种互补的方法，来检查全基因组关联研究位点的富集情况，这些位点跨越疾病以及基于人工智能图像得出的大脑、心脏和骨骼组织表型，同时研究具有四个进化分歧点的基因组区域。这些区域涵盖了人类与恒河猴之间的表观遗传差异、人类加速区域（HARs）、古代选择性清除以及尼安德特人渗入的等位基因。诸如骨盆宽度和肢体比例等骨骼特征在进化注释中显示出富集，这反映了灵长类化石记录中的形态变化。此外，我们观察到，在自猕猴以来人类获得的表观遗传元件中，与纵向束相关的位点、在人类加速区域中的视觉皮层以及在尼安德特人渗入等位基因中的丘脑本体都有富集，这意味着诸如语言处理、决策、感觉信号和运动控制等相关认知功能在不同的进化深度上都有富集。
