现代人类和尼安德特人的线粒体基因组中的融合突变和单核酸变异
Renata C Ferreira1, Camila R Rodrigues2, James R Broach3
1Center for Medical Bioinformatics, Federal University of São Paulo, São Paulo 04039032, SP, Brazil.
International journal of molecular sciences
|April 13, 2024
概括
现代人类携带尼安德特人的线粒体DNA (mtDNA) 签名,挑战了以前的信念. 这些通过高级分析识别的遗传标记,表明它们存在的原因是融合进化而不是古代杂交.
科学领域:
- 遗传学 遗传学 是一个
- 古遗传学是古遗传学的一部分.
- 人类进化人类进化
背景情况:
- 尼安德特人对现代人类核基因组的遗传贡献是通过与古老的解剖现代人类 (AMHs) 杂交而建立的.
- 以前的研究表明,尼安德特人线粒体DNA (mtDNA) 对当代人类基因组的贡献缺乏.
- 尼安德特人签名通常通过比较现存的人类基因组与古代DNA (古遗传组) 来识别.
研究的目的:
- 调查现代人类线粒体基因组中尼安德特人签名的存在和起源.
- 确定人类mtDNA中观察到的尼安德特人单核酸变体 (N-SNV) 是否来自杂交或融合进化的结果.
主要方法:
- 对尼安德特人单核酸变体 (N-SNVs) 的现代人类线粒体基因组的分析.
- 鉴定的N-SNVs与古老的解剖现代人类 (AMH) 线粒体相比较.
- 重组试验和主要成分分析 (PCA) 的应用.
主要成果:
- 在现代人类线粒体基因组中确定了66个潜在的尼安德特人签名 (N-SNVs).
- 36个N-SNV位于编码区域,其中7个导致非同义变化.
- 七个N-SNV与包括阿尔茨海默氏症,帕金森病和自行车吐综合征在内的特征有关;两个与智商系数有关.
结论:
- 现代人类线粒基因组中N-SNVs的存在归因于融合进化,而不是与尼安德特人重组.
- 这些发现挑战了关于当代人类群体中尼安德特人mtDNA缺失的既定观点.
- 尼安德特人的遗传延伸到线粒体DNA,影响人类的特征和疾病.
相关概念视频
Animal Mitochondrial Genetics
7.6K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.6K
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
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
12.5K
The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
12.5K
Gene Conversion
9.7K
Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
9.7K
Convergent Evolution
27.7K
Evolution shapes the features of organisms over time, ensuring that they are suited for the environments in which they live. Sometimes, selection pressure leads to the rise of similar but unrelated adaptations in organisms with no recent common ancestors, a process known as convergent evolution.
27.7K
Mismatch Repair
4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K


