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人类胎儿G gamma和A gamma-globin基因:完整的核酸序列表明,这些重复的基因之间可以交换DNA
Cell
|October 1, 1980
概括
人类环球蛋白基因中的基因转换表明生殖线重组和常见的DNA多态. 这些发现突出了由基因间交换和种群内的序列变异产生的遗传多样性.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 人类基因组学 人类基因组学
背景情况:
- 该研究调查了来自单个个体的G gamma和A gamma-globin基因的核酸序列.
- 人类环球蛋白基因在氧气运输中起着至关重要的作用,并受到各种遗传机制的影响.
研究的目的:
- 分析等位基因和非等位基因的马球蛋白基因之间的序列差异和相似之处.
- 研究基因转换和重组在塑造全球蛋白基因演变中的潜在作用.
主要方法:
- 来自两个同源染色体的G gamma和A gamma-globin基因的核酸测序.
- 对比序列分析以确定中间序列 (IVS1和IVS2) 中的差异和相似之处.
主要成果:
- 在玛环球基因中确定了保守的干预序列 (IVS1) 和可变的干预序列 (IVS2).
- 在IVS2.2内观察到简单序列DNA延伸的两侧都有不同的序列变异模式.
- 假设基因转换事件发生在染色体A上的A玛基因的5'区域.
结论:
- 表明在人类的生殖系中发生了基因间转换.
- 提供了DNA序列多态性的证据,包括删除,添加和基替代,在人类群体中很常见.
相关概念视频
Gene Families
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Animal Mitochondrial Genetics
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...
Gene Conversion
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...
Genome Copying Errors
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.
Gene Duplication and Divergence
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 characterized.
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 characterized.
Exon Recombination
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Exon shuffling follows “splice frame rules.” Each exon has three reading...

