Mfsd7b促进胆的运输,误解突变会影响胆的运输功能
Hoa Thi Thuy Ha1, Viresh Krishnan Sukumar1, Jonathan Wei Bao Chua2
1Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, 119228, Singapore.
Cellular and molecular life sciences : CMLS
|December 6, 2023
概括
含有7b (MFSD7b) 的超级家族域被确定为胆输送物,而不仅仅是输出物. 这一发现揭示了MFSD7bb.
科学领域:
- 分子生物学分子生物学
- 细胞生物学 细胞生物学
- 生物化学 生物化学
背景情况:
- 作为主要促进者超级家族的一部分,MFSD7b此前被确定为参与恒温的出口商.
- 在MFSD7b (FLVCR1) 中的突变与神经系统疾病,如视网膜色素炎有关.
- 尽管MFSD7b在出口中起着众所周知的作用,但其表达范围广泛,这表明它具有额外的功能.
研究的目的:
- 为了研究MFSD7b.b.的非体运输功能.
- 要确定MFSD7b是否运输其他小分子,特别是胆.
- 描述MFSD7b运输活动的机制和保存.
主要方法:
- 哺乳动物细胞培养和表达系统.
- 胆吸收测试用于测量运输速率.
- 基因淘汰和位点定向突变发生,以评估MFSD7b的功能.
- 跨物种的保护研究.
主要成果:
- MFSD7b的表达显著增加了对哺乳动物细胞的胆进口.
- 击败MFSD7b减少了细胞胆的流入.
- MFSD7b的胆运输取决于细胞内胆水平和代谢酶 (例如CHKA),但不取决于阴离体梯度.
- MFSD7b的胆运输功能在从到人类的物种中得到保护.
- 确定了MFSD7b中的误解突变,这些突变会损害其胆运输活性.
结论:
- 在哺乳动物细胞中,MFSD7b作为促进性胆载体起作用.
- 这一发现扩大了MFSD7b已知的生理作用,超出了血红素运输范围.
- MFSD7b代表了理解胆稳态和相关病理学的新目标.
相关概念视频
01:39Mutations
83.0K
Overview
83.0K
01:31Translation
142.1K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.1K
02:27Nonsense-mediated mRNA Decay
10.6K
The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
10.6K
01:48ATP Synthase: Mechanism
14.7K
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
14.7K
01:19Membrane Asymmetry Regulating Transporters
4.5K
Enzymes like flippase, floppase, and scramblase transfer phospholipids from one layer to another in the membrane, thereby affecting membrane asymmetry.
Flippase
Eukaryotic flippases are type-IV P-type ATPases or P4-ATPases belonging to P-type ATPase family proteins that are membrane-bound pumps involved in the ATP-mediated transport of ions and molecules across the membrane. Flippases flip specific phospholipids from the outer to the inner leaflet of a membrane. All P4-ATPases have one...
Flippase
Eukaryotic flippases are type-IV P-type ATPases or P4-ATPases belonging to P-type ATPase family proteins that are membrane-bound pumps involved in the ATP-mediated transport of ions and molecules across the membrane. Flippases flip specific phospholipids from the outer to the inner leaflet of a membrane. All P4-ATPases have one...
4.5K
02:18Alternative 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