RANBP2的演变和人类疾病
Sophie Desgraupes1, Lucie Etienne2, Nathalie J Arhel1
1Institut de Recherche en Infectiologie de Montpellier (IRIM), University of Montpellier, France.
FEBS letters
|October 5, 2023
概括
兰结合蛋白2 (RANBP2) 对于核毛孔复合体功能和细胞过程至关重要. 它的失调导致疾病,它的进化基因家族,RGPD,仍未得到充分研究.
科学领域:
- 细胞生物学 细胞生物学
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 兰结合蛋白2 (RANBP2/Nup358) 是核孔复合体中的一个重要的核蛋白.
- RANBP2参与各种细胞功能,包括SUMOylation和核细胞质运输.
- RANBP2的作用扩展到核外,动态,并取消片.
研究的目的:
- 审查RANBP2在元动物中的进化外观和意义.
- 讨论与RANBP2失调相关的病理,包括改变表达,局部或突变.
- 要突出研究不足的基因家族RANBP2和GCC2蛋白域 (RGPD) 以及它们的潜在进化优势.
主要方法:
- 关于RANBP2功能,病理和演变的文献综述.
- 对基因家族进化的分析,包括在猿类中发生的基因丢失/重复事件.
- 综合关于RANBP2在人类疾病和病毒感染中的作用的当前知识.
主要成果:
- RANBP2涉及各种细胞过程,其失调与急性死性脑病,1癌症和神经退行性疾病有关.
- RANBP2基因区域表现出高度的结构变异,导致猿类进化过程中的RGPD基因家族.
- 尽管进化证据表明有好处,但RGPD的功能在很大程度上是未知的.
结论:
- 在甲基动物中,RANBP2是必不可少的,其改变的表达或突变导致了人类显著的病理.
- RANBP2基因和RGPD家族的进化动态需要进一步研究.
- 了解RANBP2的多方面的作用和相关疾病对于未来的研究和治疗策略至关重要.
相关概念视频
Alternative RNA Splicing
21.2K
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...
21.2K
The Ras Gene
6.3K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
6.3K
The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Bacterial RNA Polymerase
29.6K
Unlike eukaryotes, bacteria use a single RNA Polymerase (RNAP) to transcribe all genes. The different subunits of bacterial RNAPhave distinct functions. The multisubunit structure of the bacterial RNAP helps the enzyme to maintain catalytic function, facilitate assembly, interact with DNA and RNA, and self-regulate its activity.
In most genes, the transcription site is a single base present upstream of the coding sequence. Though RNAP is a catalytically efficient enzyme, it does not recognize...
In most genes, the transcription site is a single base present upstream of the coding sequence. Though RNAP is a catalytically efficient enzyme, it does not recognize...
29.6K
Comparing Copy Number Variations and SNPs
17.7K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.7K
Exon Recombination
3.6K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.6K


