category
bioRxiv
date
Mar 10, 2026
slug
status
Published
summary
首次利用端粒到端粒基因组组装技术,系统揭示灵长类X/Y染色体扩增基因家族的动态演化规律,发现X染色体扩增基因普遍存在跨物种正选择现象,而Y染色体扩增基因主要受纯化选择作用。
tags
测序技术
蛋白质进化
type
Post

📄 原文题目

Pervasive positive selection on X-linked ampliconic genes in primates

🔗 原文链接

💡 AI 核心解读

首次利用端粒到端粒基因组组装技术,系统揭示灵长类X/Y染色体扩增基因家族的动态演化规律,发现X染色体扩增基因普遍存在跨物种正选择现象,而Y染色体扩增基因主要受纯化选择作用。

📝 英文原版摘要

Mammalian sex chromosomes harbour ampliconic gene families, which are multi-copy genes with [≥]97% sequence identity, predominantly expressed in testis tissue and essential for male fertility. Amplification of testis-specific genes is conserved across mammals, yet the specific gene families that expand show striking lineage-specific variation. Previous studies suggest a dynamic turnover with adaptive evolution for several of these families, but their analysis has been limited by the quality of reference genomes of repetitive regions. To characterize the molecular evolutionary processes of ampliconic gene families on both sex chromosomes, we analysed telomere-to-telomere genome assemblies from eight primate species spanning 25 million years of evolution. We identified 53 X-linked and 19 Y-linked ampliconic gene families with dynamic copy number variation. Gene conversion through palindromic pairing and tandem arrays maintained high sequence similarity despite accumulating mutations. X-linked families maintained conserved chromosomal positions despite copy number changes, while Y-linked families showed frequent positional turnover. Strikingly, multiple X-linked families (GAGE, SSX, CSAG, VCX) showed pervasive positive selection across the primate phylogeny and multiple (MAGEB, CT45, HSFX) showed lineage specific positive selection. Y-linked families predominantly evolve under purifying selection. These patterns could suggest that sperm competition, meiotic drive, or dosage-dependent selection drive the rapid, lineage-specific evolution of testis-expressed ampliconic genes in primates.
快速且可重复的体外生成人类表达parvalbumin的皮层中间神经元基于生物库规模的罗伯逊易位基因分型揭示人类近端着丝粒染色体上的隐藏结构变异
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