人类染色体18的DNA序列和分析
Chad Nusbaum1, Michael C Zody, Mark L Borowsky
1Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, Massachusetts 02141, USA. chad@broad.mit.edu
Nature
|September 24, 2005
概括
人类染色体18尽管基因密度低,但在非编码DNA中显示出显著的进化保存. 这一发现影响了我们对基因组结构和功能的理解,特别是对遗传疾病的理解.
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:
- 18号染色体在人类染色体中具有最低的基因密度.
- 三重症18是少数与长期存活相容的三重症状况之一.
- 遗传性疾病与第18号染色体有关.
研究的目的:
- 报告人类染色体18的完成序列和基因注释.
- 增强对染色体18的正常和疾病生物学的理解.
- 研究18号染色体上非蛋白质编码序列的进化保存.
主要方法:
- 人类染色体18的全基因组测序 18.
- 18号染色体的基因注释 18.
- 对哺乳动物中非蛋白质编码序列的比较基因组分析.
主要成果:
- 完成了人类染色体18的最终序列和基因注释.
- 18号染色体呈现出高比例的进化保存的非蛋白质编码序列,接近全基因组平均值.
- 保存的非蛋白质编码序列密度在很大程度上与人类基因组中的基因密度无关.
结论:
- 18号染色体的全面序列和注释为未来对其生物学和相关疾病的研究提供了基础.
- 18号染色体上非编码元素的高度保存表明重要的调节性或功能性作用.
- 基因密度和保存的非编码序列之间缺乏相关性,对理解基因组进化和功能有广泛的影响.
相关概念视频
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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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