具有高度相似的染色体内重复的全基因组图,可以在三个人类基因组组合中调解子宫外重组
Luis Fernandez-Luna1, Carlos Aguilar-Perez1, Christopher M Grochowski2
1International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro, México.
HGG advances
|December 26, 2024
概括
基因组重复会影响染色体结构和变异. 分析显示,较小,不太相同的重复,如Alu-Alu对,是异位重组和重组的关键,特别是影响嗅觉和免疫基因.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 生物信息学是一种生物信息学.
背景情况:
- 重复的DNA序列对于基因组结构和进化至关重要.
- 在类似的重复之间进行子宫外再组合驱动结构变异.
研究的目的:
- 在人类基因组组合中分析直接和倒置的染色体内重复.
- 为了识别与子宫外重组和基因组重组相关的重复特征.
主要方法:
- 对重复对的全基因组分析 (≥200 bp,≥80%的同一性).
- 在人类基因组组合GRCh37,GRCh38和T2T-CHM13之间进行比较.
- 与蛋白质编码基因的交叉引用重复.
主要成果:
- 重复构成13% - 15%的平分体基因组,在组件中分布相似.
- 大多数重复是<1kb,中位数相同度为84.2%.
- 嗅觉受体和免疫反应基因在参与重新排列的重复中得到丰富.
结论:
- 较小,不太相同的重复,如Alu-Alu对,是异胎性重组的重要基质.
- 涉及重复的基因组重组不成比例地影响嗅觉和免疫基因.
相关概念视频
Conservative Site-specific Recombination and Phase Variation
5.9K
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...
5.9K
Crossing Over
4.1K
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,...
4.1K
Chromosome Structure
22.6K
A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
22.6K
Homologous Recombination
50.2K
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...
50.2K
Genomic DNA in Eukaryotes
46.6K
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
46.6K
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


