相关实验视频
Updated: May 12, 2026

14:49
Associated Chromosome Trap for Identifying Long-range DNA Interactions
Published on: April 23, 2011
人类染色体13的DNA序列和分析
A Dunham1, L H Matthews, J Burton
1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK. ad1@sanger.ac.uk
Nature
|April 2, 2004
概括
研究人员完成了13号染色体的测序,确定了633个基因和296个假基因. 这种最大的中心染色体包含关键的癌症和神经疾病基因,超过95%的蛋白质编码基因已经被确定.
科学领域:
- 人类遗传学 人类遗传学
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 染色体13是一个大型的中心性人体染色体.
- 它含有对人类健康至关重要的基因,包括BRCA2和RB1 (癌症) 和DAOA (神经系统疾病).
- 之前对13号染色体的表征是不完整的.
研究的目的:
- 为了完成13号染色体的测序.
- 分析13号染色体的基因含量和密度.
- 将基因鉴定与其他脊椎动物基因组进行比较.
主要方法:
- 从染色体13对95.5兆基 (Mb) 的DNA进行测序.
- 对测序区域的生物信息分析.
- 与其他脊椎动物序列进行比较基因组学分析.
主要成果:
- 完成并分析了95.5 Mb的染色体13序列.
- 鉴定了633个编码蛋白质的基因和296个伪基因.
- 发现了105个假定的非编码RNA基因.
- 估计已经确定了超过95.4%的蛋白质编码基因.
- 低基因密度的特征 (6.5基因/Mb),中心区域为3.1基因/Mb.
结论:
- 测序和分析提供了13号染色体的全面视图.
- 染色体13具有较低的基因密度,特别是在它的中心区域.
- 这些已识别的基因对于了解癌症和神经系统疾病至关重要.
相关概念视频
Karyotyping
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...
Histone Variants at the Centromere
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
X and Y Chromosomes
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...
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...

