在健康和疾病中的X-无活化,印记和长非编码RNA
Jeannie T Lee1, Marisa S Bartolomei
1Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA. lee@molbio.mgh.harvard.edu
Cell
|March 19, 2013
概括
像X染色体失活和基因组印记这样的表观遗传过程调节了基因表达. 这些过程的调节失调,通常涉及长非编码RNA,可能导致疾病,并有可能为未来的疗法.
科学领域:
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 在哺乳动物中,X染色体失活和基因组印记是关键的表观遗传机制.
- 这些过程涉及大基因集群的等位基因控制,确保单等位基因表达.
- 基因印记的确切功能仍在争论中,与X染色体失活在基因剂量补偿中的作用不同.
研究的目的:
- 审查 X 染色体无活化和基因组印记的基本生物学方面的最新进展.
- 探索这些表观遗传现象与人类疾病之间的联系.
- 预览针对这些过程的潜在治疗策略.
主要方法:
- 在表观遗传学和疾病的最新研究的文献综述.
- 分析长非编码RNA在等位基调调节中的作用.
- 综合当前对疾病机制和治疗方法的理解.
主要成果:
- 长非编码RNA被确定为X无活化和印记的基调节的常见机制.
- 这些RNA对与印记和X染色体相关的疾病的贡献越来越明显.
- 突出了实现协调的远程cis控制和稳定传播以实现等位基调的挑战.
结论:
- 了解长非编码RNAs的作用对于破译X失活和基因组印记的疾病至关重要.
- 基础生物学方面的进步为开发新型治疗策略提供了基础.
- 向表观遗传机制为治疗印记和X染色体相关疾病提供了潜力.
相关概念视频
01:58X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
01:58X-inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
03:17Inheritance of Chromatin Structures
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
02:39lncRNA - Long Non-coding RNAs
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA (lncRNA)...
02:39lncRNA - Long Non-coding RNAs
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA (lncRNA)...
01:37Epigenetic Regulation
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...