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相关概念视频

Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

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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.
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Karyotyping01:17

Karyotyping

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Overview
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Chromosome Structure02:40

Chromosome Structure

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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...
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X and Y Chromosomes02:32

X and Y Chromosomes

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Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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相关实验视频

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Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
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Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

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人类染色体8的DNA序列和分析

Chad Nusbaum1, Tarjei S Mikkelsen, Michael C Zody

  • 1Broad Institute of MIT and Harvard, 320 Charles St, Cambridge, Massachusetts 02141, USA. chad@broad.mit.edu

Nature
|January 20, 2006
PubMed
概括

研究人员对人类8号染色体进行了测序,发现它是典型的,但在8p上有一个快速进化的区域. 这个区域含有免疫和神经系统的基因,可能会影响人类进化.

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科学领域:

  • 基因组学就是基因组学.
  • 人类遗传学 人类遗传学
  • 进化生物学 进化生物学

背景情况:

  • 国际人类基因组测序联盟 (IHGSC) 完成了人类基因组测序.
  • 染色体8被分析为这个综合性项目的一部分.
  • 染色体8接近基因组关键特征的中位数,例如长度和基因含量.

研究的目的:

  • 为人类染色体8提供完整的序列和基因目录.
  • 为了研究8号染色体的独特特征,特别是它的进化动态.
  • 了解8号染色体对人类生物学和进化的遗传构成的影响.

主要方法:

  • 基因组测序和染色体分析 8.
  • 在染色体8上的基因的识别和编目.
  • 对突变率和进化压力的比较分析.

主要成果:

  • 为8号染色体生成了一个完整的序列和基因目录.
  • 染色体8在很大程度上是典型的,但8p上的15Mb区域显示了人类类动物的加速突变率.
  • 这种快速发展的区域包括先天免疫 (DEF集群) 和神经系统发育 (MCPH1) 的基因,有证据表明积极选择.

结论:

  • 染色体8序列和基因目录为了解人类生物学和疾病提供了宝贵的资源.
  • 8p区域的加速进化为人类特异性适应提供了洞察力,包括对大脑大小进化的潜在贡献.
  • 染色体8数据有助于理解基因组进化和人类特征的遗传基础.