在RNF212基因的序列变异与全基因组重组率相关
Augustine Kong1, Gudmar Thorleifsson, Hreinn Stefansson
1deCODE Genetics Inc, 101 Reykjavik, Iceland. kong@decode.is
概括
在RNF212基因的遗传变异影响人类全基因组复合率. 一个与高雄重组相关的特定单元型显示出低雌性重组,平衡了人口率.
科学领域:
- 遗传学 是一个遗传学.
- 人类基因组学 人类基因组学
- 人口遗传学 人口遗传学
背景情况:
- 在个体之间存在全基因组重组率的变化.
- 控制人类重组率变化的潜在遗传机制在很大程度上是未知的.
- 重组对于遗传多样性和适当的染色体分离至关重要.
研究的目的:
- 确定影响人类全基因组重组率的遗传因素.
- 研究RNF212基因在人类重组中的作用.
- 了解序列变异如何在男性和女性中不同影响重组率.
主要方法:
- 全基因组关联研究以确定与重组率相关的序列变异.
- 分析4p16.3区域的变异,特别是RNF212基因中的变异.
- 哈普洛型分析用于评估单核酸多态 (SNP) 的综合效应.
主要成果:
- 在RNF212基因 (4p16.3) 中的序列变异与两性中全基因组重组率显著相关.
- 在RNF212中,一个特定的单元型表现出相反的效果:增加男性的重组,同时减少女性的重组.
- RNF212是C. elegansZHP-3的假定正义基因,它是已知的重组调节器.
结论:
- RNF212是一个关键的人类基因,影响全基因组重组率.
- RNF212变异的性别特异性影响有助于男性和女性之间的不同重组率.
- 哈普洛型频率的变化可以改变性别特定的重组率,同时保持稳定的人口平均率.
更多相关视频
09:04Studying Ribonucleotide Incorporation: Strand-specific Detection of Ribonucleotides in the Yeast Genome and Measuring Ribonucleotide-induced Mutagenesis
Published on: July 26, 2018
11:35Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
相关概念视频
Conservative Site-specific Recombination and Phase Variation
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
The recognition sites for Cre recombinase called LoxP...
Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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...
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...
Crossing Over
Crossing over is the exchange of genetic information between homologous chromosomes during prophase I of meiosis I. Genetic recombination gives rise to allelic diversity in the newly formed daughter cells. In humans, crossing over produces genetically distinct haploid egg and sperm cells that undergo fertilization to produce unique offspring. Before cell division starts, the germ cell’s chromosome(s) undergo duplication in the S phase of the cell cycle. As the cells enter prophase I, duplicated...
Homologous Recombination
The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...
