一种新型的反意义 lncRNA,ARBAG 含有 RNA 破坏稳定的 GWAS 变体的 C ,决定了小脑中的 GABRA6 的转录异型
Khushdeep Bandesh1,2, Muneesh Pal1, Abitha Balakrishnan1
1CSIR-Institute of Genomics and Integrative Biology, Delhi 110025, India.
Human molecular genetics
|July 27, 2023
概括
一个长非编码RNA (lncRNA) 的遗传变异通过改变GABRA6基因表达来影响C-水平. 这项研究揭示了 lncRNA 稳定性如何影响蛋白质功能和个人之间的差异.
科学领域:
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
- 分子生物学分子生物学
背景情况:
- 长非编码RNA (lncRNA) 的遗传变异与人类疾病有关,但它们的功能作用往往不清楚.
- 一种特定的变异,rs4454083,与C-水平相关,并且位于未表征的lncRNA (ARBAG) 和GABA受体基因 (GABRA6) 中.
研究的目的:
- 研究基因变异rs4454083对lncRNAARBAG的功能影响及其对感觉基因GABRA6.6的影响.
- 阐明ARBAG lncRNA影响GABRA6 mRNA和蛋白质表达的机制.
主要方法:
- 在人类小脑细胞系和诱导多能干细胞 (iPSCs) 中分析基因变异rs4454083.
- 量化ARBAG lncRNA转录水平和GABRA6 mRNA裂变的评估.
- 评估与突触加强相关的GABRA6蛋白功能.
主要成果:
- rs4454083的GG基因型稳定了ARBAG lncRNA,增加了它的转录水平.
- 增加ARBAG lncRNA导致GABRA6mRNA的分裂,导致一个功能失调的GABRA6蛋白.
- 这种机制解释了变异如何影响C-水平和突触功能.
结论:
- 一种新的lncRNA,ARBAG,在调节蛋白质编码基因GABRA6.6的表达方面发挥着关键作用.
- 基因变异rs4454083调节lncRNA稳定性,影响mRNA异型比和蛋白质表达,导致个体之间的差异.
相关概念视频
Leaky Scanning
5.2K
During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA. Marilyn Kozak discovered that the sequence RCCAUGG (where R...
5.2K
RNA Splicing
56.5K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
56.5K
lncRNA - Long Non-coding RNAs
8.6K
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...
8.6K
RNA Editing
9.1K
RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
9.1K
Experimental RNAi
6.2K
RNA interference (RNAi) is a cellular mechanism that inhibits gene expression by suppressing its transcription or activating the RNA degradation process. The mechanism was discovered by Andrew Fire and Craig Mello in 1998 in plants. Today, it is observed in almost all eukaryotes, including protozoa, flies, nematodes, insects, parasites, and mammals. This precise cellular mechanism of gene silencing has been developed into a technique that provides an efficient way to identify and determine the...
6.2K
RNA Interference
26.1K
RNA interference (RNAi) is a process in which a small non-coding RNA molecule blocks the post-transcriptional expression of a gene by binding to its messenger RNA (mRNA) and preventing the protein from being translated.
This process occurs naturally in cells, often through the activity of genomically-encoded microRNAs. Researchers can take advantage of this mechanism by introducing synthetic RNAs to deactivate specific genes for research or therapeutic purposes. For example, RNAi could be used...
This process occurs naturally in cells, often through the activity of genomically-encoded microRNAs. Researchers can take advantage of this mechanism by introducing synthetic RNAs to deactivate specific genes for research or therapeutic purposes. For example, RNAi could be used...
26.1K


