相关实验视频
Updated: Jun 19, 2025
11:09
Chromatin Isolation by RNA Purification ChIRP
Published on: March 25, 2012
86.2K
染色体结构重组涉及长非编码RNAs在罕见的生殖系疾病
Rebecca E Andersen1,2,3, Ibrahim F Alkuraya4,5, Abna Ajeesh4
1Division of Genetics and Genomics and Manton Center for Orphan Diseases, Boston Children's Hospital, Boston, MA, USA.
Human genetics
|July 26, 2024
概括
破坏长非编码RNA (lncRNAs) 的染色体异常可能导致孟德尔乱. 这项研究确定了66例重组直接影响lncRNAs的病例,表明它们在发育病因中的作用.
科学领域:
- 基因组学就是基因组学.
- 分子生物学分子生物学
- 人类遗传学 人类遗传学
背景情况:
- 非蛋白质编码基因组,特别是长非编码RNAs (lncRNAs),越来越多地被认为是其在门德尔疾病中的作用.
- 在lncRNA中注释致病变体是具有挑战性的,因为它们的非蛋白质编码性质.
研究的目的:
- 调查染色体重组是否破坏lncRNAs是显然平衡染色体异常 (BCA) 个体表型的遗传原因.
- 识别和描述BCA和潜在发育病因的个体中的IncRNA干扰.
主要方法:
- 对279个BCA病例的分析,重点关注191个简单BCA病例 (两个断点).
- 识别直接破坏 lncRNAs 的染色体重排.
- 通过敲击研究对lncRNA功能的实验验证.
主要成果:
- 确定了66例染色体重组直接破坏lncRNAs的病例.
- 在30个案例中,只有lncRNAs被破坏,支持它们在疾病中的作用.
- 在两个不相关的案例中发现了MEF2C-AS1和ENSG00000257522的干扰.
- 击败TBX2-AS1和MEF2C-AS1降低了邻近的转录因子TBX2和MEF2C的表达.
结论:
- 破坏lncRNAs的染色体重排可能是具有发育表型的门德尔性疾病的遗传病因.
- 这种基因组方法对于注释引起疾病的lncRNAs具有强大作用.
- 七个因 lncRNA 干扰而可能出现发育病因的个体呈现了临床和遗传分析.
相关概念视频
02:39lncRNA - Long Non-coding RNAs
8.5K
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...
8.5K
03:17Inheritance of Chromatin Structures
6.2K
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...
6.2K
03:18Non-LTR Retrotransposons
11.4K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.4K
02:18Alternative RNA Splicing
21.1K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
21.1K
02:57piRNA - Piwi-interacting RNAs
6.8K
PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
6.8K
02:54Nucleosome Remodeling
9.1K
Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
9.1K