人类端粒相关DNA的结构和多态性
W R Brown1, P J MacKinnon, A Villasanté
1Biochemistry Department, Oxford University, England.
Cell
|October 5, 1990
概括
研究人员分析了人类端粒DNA序列,在与端粒相关的重复中发现了新的遗传变异. 这一发现突出了整个进化过程中保留的端粒组织,并确定了人类遗传多样性的新来源.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 基因组学就是基因组学.
背景情况:
- 端粒,即真核染色体的保护帽,对于基因组稳定性至关重要.
- 与端粒相关的DNA序列在端粒的功能和组织中起作用.
- 了解端粒DNA的多样性和进化对于人类遗传学至关重要.
研究的目的:
- 分析与四个不同的人类端粒相关的DNA序列.
- 在人类端粒中识别新的重复和独特的序列.
- 研究与端粒相关的DNA中的分布和遗传变异的潜力.
主要方法:
- 人类端粒的DNA序列分析.
- 识别重复和独特的序列家族.
- 评估不同染色体末端的序列分布.
主要成果:
- 分析的两个端粒含有不同重复序列家族的成员.
- 两个端粒产生了独特的DNA序列,一个来自第7染色体,一个来自伪自体端粒.
- 一个与端粒相关的重复序列表现出多态分布,在个体的染色体末端有所不同.
结论:
- 与端粒相关的DNA序列代表了人类遗传变异的新来源.
- 与端粒相关的DNA的组织特征在整个进化过程中都得到了保留.
- 端粒序列中的多态可能导致个体遗传差异.
相关概念视频
Replication in Eukaryotes
Overview
Chromosome Structure
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...
Telomeres and Telomerase
In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded DNA.
Replicative Cell Senescence
Replicative cell senescence is a property of cells that allows them to divide a finite number of times throughout the organism's lifespan while preventing excessive proliferation. Replicative senescence is associated with the gradual loss of the telomere — short, repetitive DNA sequences found at the end of the chromosomes. Telomeres are bound by a group of proteins to form a protective cap on the ends of chromosomes. Embryonic stem cells express telomerase — an enzyme that adds the telomeric...
Replication in Eukaryotes
In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...
Telomeres and Telomerase
In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded DNA.


