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bioRxiv · 10.64898/2026.03.09.710536

Pervasive positive selection on X-linked ampliconic genes in primates

Diepeveen, E. F.·Riera Belles, M.·Schierup, M.
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Abstract

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.

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Diepeveen, E. F., Riera Belles, M., Schierup, M.. 2026-03-10. Pervasive positive selection on X-linked ampliconic genes in primates. https://doi.org/10.64898/2026.03.09.710536

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