基因序列中的一些名词区别（CDS、Exon、Intron、UTR、ORF、 …
外显子 （expressed region），是真核生物基因的一部分，它在剪接后仍会被保存下来，并可在蛋白质生物合成过程中被表达为蛋白质。 外显子是最后出现在成熟RNA中的基因序列，又称表达序列。 既存在于最初的转录产物中，也存在于成熟的RNA分子中的核苷酸序列。 通过确定在多种生物中出现的片段来鉴定编码区域，而外显子的保守性可以作为这种鉴定的基础。 4. 开放阅读框 ORF （open reading frame）它是理论上的蛋白编码区，一般是先在DNA序列中寻找起始密码 …
能否简单易懂的介绍外显子（exon），内含 …
断裂基因/中断基因 是指在DNA序列中，一系列可被表达成RNA或蛋白质的DNA片段（也就是外显子exon）被一系列不能转录成RNA或翻译成蛋白质的DNA片段（也就是intron）给分割开来。
The structure of pathogenic huntingtin exon 1 defines the bases …
2023年3月2日 · Integrative data analysis reveals that the poly-Q tract adopts long α-helical conformations propagated and stabilized by glutamine side chain to backbone hydrogen bonds. We show that α-helical...
The pathogenic exon 1 HTT protein is produced by incomplete
2017年5月2日 · We found that the HTTexon1 mRNA is present in fibroblasts from juvenile HD patients and can also be readily detected in the sensory motor cortex, hippocampus and cerebellum of post-mortem brains...
Exon 1-targeting miRNA reduces the pathogenic exon 1 HTT …
2024年8月18日 · We have developed an engineered microRNA targeting the HTT exon 1 sequence (miHTT), delivered via adeno-associated virus serotype 5 (AAV5). The target sequence of miHTT is present in both FL HTT and HTT1a transcripts.
Exon 1-targeting miRNA reduces the pathogenic exon 1 HTT
2024年12月3日 · We have developed an engineered microRNA targeting the HTT exon 1 sequence (miHTT), delivered via adeno-associated virus serotype 5 (AAV5). The target sequence of miHTT is present in both FL HTT and HTT1a transcripts.
Truncation of mutant huntingtin in knock-in mice demonstrates ... - Nature
2020年5月22日 · Here, using CRISPR/Cas9 to truncate full-length mutant HTT in HD140Q knock-in (KI) mice, we show that exon 1 HTT is stably present in the brain, regardless of truncation sites in full-length HTT....
The structure of pathogenic huntingtin exon 1 defines the
2023年3月3日 · We show that α-helical stability is a stronger signature in defining aggregation kinetics and the structure of the resulting fibrils than the number of glutamines. Our observations provide a structural perspective of the pathogenicity of expanded httex1 and pave the way to a deeper understanding of poly-Q-related diseases. © 2023.
Interaction between huntingtin exon 1 and HEAT repeat structure …
Huntington disease (HD) is associated with aggregation of huntingtin (HTT) protein containing over 35 continuous Q residues within the N‐terminal exon 1 encoded region. The C‐terminal of the HTT protein consists mainly of HEAT repeat structure which serves as a scaffold for multiple cellular activities.
The pathogenic exon 1 HTT protein is produced by incomplete
2017年5月2日 · We have previously shown that exon 1 of the huntingtin gene does not always splice to exon 2 resulting in the production of a small polyadenylated mRNA (HTTexon1) that encodes the highly pathogenic exon 1 HTT protein. The level of this read-through product is proportional to CAG repeat length and is …