超基长突变伴随着17p11.2的人类结构变化
Christine R Beck1, Claudia M B Carvalho1, Zeynep C Akdemir1
1Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
Cell
|March 5, 2019
概括
这项研究揭示了微同学介导的断裂诱导复制 (MMBIR) 导致人类基因组中的结构变异 (SV). 导致在重组部位附近发生突变,
科学领域:
- 遗传学
- 基因组学
- 分子生物学
背景情况:
- 人类基因组中的结构变异 (SV) 源于各种突变过程.
- 对于解读基因组的不稳定性至关重要.
研究的目的:
- 为了研究新染色体17p11.2重排的分子机制.
- 分析复发性和非复发性结构变异形成事件.
主要方法:
- 使用长读和短读测序技术.
- 分析了新染色体17p11.2重组的最终产物.
主要成果:
- 观察到与非反复重组相关的聚类单核酸变异 (SNV) 突变的增加率.
- 发现indel和SNV的形成发生在破点结处的1 Mb以内,无论是副本数量的增加还是损失.
- 确定了对C > G转换替代的偏好,这表明单链DNA参与.
- 提供了强有力的证据支持微同质介导的断裂诱导复制 (MMBIR) 机制.
- 检测到来自MMBIR的局部超突变负担,主要表现为基因内的SNV和indel.
结论:
- 微同质介导的断裂诱导复制 (MMBIR) 机制对结构变异的形成作出了重大贡献.
- 在基因内,MMBIR带来了额外的突变负担,其特征是局部超基因突变 (SNV和indels).
更多相关视频
相关概念视频
What is Variation?
18.4K
Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
18.4K
Variation
8.0K
An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
8.0K
Conservative Site-specific Recombination and Phase Variation
6.8K
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...
6.8K
Variation of Atmospheric Pressure
4.1K
Change in atmospheric pressure with height is particularly interesting. The decrease in atmospheric pressure with increasing altitude is due to the decreasing gravitational force per unit area as we move away from the surface of the earth.
Assuming the air temperature is constant at a given altitude and that the ideal gas law of thermodynamics describes the atmosphere to a good approximation, one can find the variation of atmospheric pressure with height.
Let p(y) be the atmospheric pressure at...
Assuming the air temperature is constant at a given altitude and that the ideal gas law of thermodynamics describes the atmosphere to a good approximation, one can find the variation of atmospheric pressure with height.
Let p(y) be the atmospheric pressure at...
4.1K
Comparing Copy Number Variations and SNPs
18.7K
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%...
18.7K
Coefficient of Variation
8.6K
The coefficient of variation measures the dispersion of the data points or distribution around the mean. Using the coefficient of variation, we can compare two data series with drastically different means or different units of measurement. The coefficient of variation for a sample and a population is expressed as a percentage of the ratio of standard deviation to the mean.
The coefficient of variation is a practical statistical tool in finance. It allows investors to assess the volatility or...
The coefficient of variation is a practical statistical tool in finance. It allows investors to assess the volatility or...
8.6K


