研究人员在98名现今人类中鉴定了30种结构上不同的单倍型，揭示了AMY1拷贝的编码序列在负向选择下演化。
对古代人类和古人类基因组中这些单倍型的基因组分析表明，最早可追溯到80万年前的，常见三拷贝单倍型通过反复发生的非等位基因同源重组，促使了快速演化的重排。
此外，AMY1拷贝数超过三的单倍型在过去4000年间欧洲农民中显著增加，可能是对增强淀粉消化能力的适应性响应。
据了解，先前的研究表明，人类唾液淀粉酶基因AMY1的拷贝数量与富含淀粉的饮食相关。然而，由于缺乏精确的、序列解析的单倍型变异图，进化分析受到限制。
附：英文原文
Title: Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation
Author: Feyza Ylmaz, Charikleia Karageorgiou, Kwondo Kim, Petar Pajic, Kendra Scheer, Human Genome Structural Variation Consortium, Christine R. Beck, Ann-Marie Torregrossa, Charles Lee, Omer Gokcumen
Issue&Volume: 2024-10-17
Abstract: Previous studies suggested that the copy number of the human salivary amylase gene, AMY1, correlates with starch-rich diets. However, evolutionary analyses are hampered by the absence of accurate, sequence-resolved haplotype variation maps. We identified 30 structurally distinct haplotypes at nucleotide resolution among 98 present-day humans, revealing that the coding sequences of AMY1 copies are evolving under negative selection. Genomic analyses of these haplotypes in archaic hominins and ancient human genomes suggest that a common three-copy haplotype, dating as far back as 800 KYA, has seeded rapidly evolving rearrangements through recurrent non-allelic homologous recombination. Additionally, haplotypes with more than three AMY1 copies have significantly increased in frequency among European farmers over the past 4,000 years, potentially as an adaptive response to increased starch digestion.
DOI: adn0609
Source: https://www.science.org/doi/10.1126/science.adn0609