全球多样性,反复演变,以及最近对人类的粉酶结构单元型的选择
Davide Bolognini1, Alma Halgren2, Runyang Nicolas Lou2
1Human Technopole, Milan, Italy.
bioRxiv : the preprint server for biology
|February 19, 2024
概括
人类粉酶基因拷贝数量随着农业的采用而显著增加,反映了过去12,000年来适应富含粉的饮食的情况.
科学领域:
- 人类进化遗传学 人类进化遗传学
- 基因组学就是基因组学.
- 营养人类学 营养人类学
背景情况:
- 农业革命 (约12,000年前) 将人类的饮食转向了粉,影响了人类的进化.
- 氨基酶基因 (AMY1,AMY2A,AMY2B) 对于粉消化至关重要,其拷贝数量变化与饮食中粉摄入量有关.
- 关于最近对糖酶基因拷贝数的选择的先前证据是有限的.
研究的目的:
- 为了研究人类的多样性,进化史和对糖酶基因结构变异的选择性压力.
- 分析农业饮食对氨基酶基因拷贝数和结构的影响.
- 通过使用先进的测序和泛基因组方法,在粉酶位点识别最近人类选择的签名.
主要方法:
- 分析了52个长读二分化组合和约5,600名当代和古代人类的短读数据.
- 氨基酶基因结构架构和拷贝数变异的识别和特征.
- 应用基于泛基因组图的方法来推断结构类型.
- 对533个古人类基因组的检查,以追踪12,000年来频率的变化.
主要成果:
- 与其他生存策略相比,在以农业为生的人群中,氨基酶基因拷贝数量更高.
- 确定了28种不同的粉酶结构架构,类似结构的反复演变.
- 在过去的12,000年里,含有重复的氨酶单体的频率在西欧亚洲人中增加了七倍以上.
- 氨基酶基因重复/删除的突变率是SNP突变率的1万倍以上.
结论:
- 农业革命推动了人类氨基酶基因拷贝数和结构的显著适应性变化.
- 长读测序和泛基因组方法对于解决复杂的结构变异和检测选择至关重要.
- 这些发现提供了强有力的证据,证明人类最近适应了由农业驱动的富含粉的饮食.
相关概念视频
Gene Evolution - Fast or Slow?
7.1K
The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
In contrast, regions which code...
7.1K
Mutation, Gene Flow, and Genetic Drift
58.4K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
58.4K
Gene Duplication and Divergence
6.1K
The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
6.1K
Multi-species Conserved Sequences
3.9K
Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
3.9K
Evolutionary Relationships through Genome Comparisons
5.7K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
5.7K
Synteny and Evolution
3.3K
John H. Renwick first coined the term “synteny” in 1971, which refers to the genes present on the same chromosomes, even if they are not genetically linked. The species with common ancestry tend to show conserved syntenic regions. Therefore, the concept of synteny is nowadays used to describe the evolutionary relationship between species.
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
Around 80 million years ago, the human and mice lineages diverged from the common ancestor. During the course of evolution, the ancestral...
3.3K


