Mutations in genes encoding components of a post-translational-modifying protein complex cause another collagen disease

2006 ◽  
Vol 3 (11) ◽  
pp. 10-13 ◽  
Author(s):  
Stephen M Krane

Microbiology ◽  
2007 ◽  
Vol 153 (6) ◽  
pp. 1772-1780 ◽  
Author(s):  
Luis F Larrondo ◽  
Paulo Canessa ◽  
Francisco. Melo ◽  
Rubén Polanco ◽  
Rafael. Vicuña


2012 ◽  
Vol 40 (3) ◽  
pp. 71-77 ◽  
Author(s):  
Jean Semé Fils Alexandre ◽  
Phonepadith Xangsayarath ◽  
Morakot Kaewthamasorn ◽  
Kazuhide Yahata ◽  
Jetsumon Sattabongkot ◽  
...  


2021 ◽  
Author(s):  
María-Dolores Chiara ◽  
Lucía Celada ◽  
Andrés San José Martinez ◽  
Tamara Cubiella ◽  
Enol Álvarez-González ◽  
...  

Paragangliomas and pheochromocytoma (PPGLs) are hereditary tumors in about 40% of cases. Mutations in the genes encoding for components of the mitochondrial succinate dehydrogenase protein complex (SDHB, SDHD, SDHC) are among the most prevalent. Most PPGLs have a benign behavior, but patients with germline SDHB mutations may develop metastatic PPGLs in up to 30% of cases. This suggest that the SDH substrate, succinate, is key for the activation of the metastatic cascade. The last decade has witnessed significant advances in our understanding of how succinate may have oncogenic properties. It is now widely accepted that succinate is an oncometabolite that modifies the epigenetic landscape of SDH-deficient tumors via modulating the activities of DNA and histone modification enzymes. In this chapter, we summarize recent discoveries linking SDH-deficiency and metastasis in SDH-deficient PPGLs via inhibition of DNA methylcytosine dioxygenases, histone demethylases and modified expression of non-coding RNAs. We also highlight promising therapeutic avenues that may be used to counteract epigenetic deregulations.



2008 ◽  
Vol 133 (2) ◽  
pp. 270-277 ◽  
Author(s):  
Choun-Sea Lin ◽  
Nien-Tzu Liu ◽  
De-Chih Liao ◽  
Jau-Song Yu ◽  
Chuang-Hwei Tsao ◽  
...  

The chloroplast genome of an albino mutant isolated from tissue culture of the bamboo Bambusa edulis Munro was examined to identify aberrations. A number of the chloroplast genes encoding ATP synthases, photosystem II subunits, NADH dehydrogenase, and ribosomal proteins had been deleted, at least partially, in the albino mutant. Comparison of the two-dimensional electrophoresis profiles of albino and green bamboos revealed three spots of reduced intensity, indicating repression of these proteins in the albino mutants. Mass spectroscopic analysis subsequently revealed that two of these proteins are 33-kDa subunits of the photosystem II oxygen-evolving protein complex (PsbO) and one is a 23-kDa subunit of photosystem II oxygen-evolving protein complex (PsbP). The genes encoding these two proteins were cloned from B. edulis, and were denoted BePsbO (accession no. EF669513) and BePsbP (accession no. EF669512). Reverse transcription polymerase chain reaction and two-dimensional gel analyses of BePsbO and BePsbP in green and albino bamboos grown in the light or dark revealed that the albino mutant, similar to its green counterpart, sensed the light signal, resulting in the induction of BePsbO and BePsbP transcription, but it did not accumulate the protein products. We conclude that the repression of protein-expressing BePsbO and BePsbP is because of a defect in post-transcriptional regulation in the albino mutant.



2018 ◽  
Author(s):  
Ying Chen ◽  
Ke Li ◽  
Xiao Chu ◽  
Lucas B. Carey ◽  
Wenfeng Qian

ABSTRACTDNA replication alters the dosage balance among genes; at the mid-S phase, early-replicating genes have doubled their copies while late-replicating genes have not. Dosage imbalance among proteins, especially within members of a protein complex, is toxic to cells. Here, we propose the synchronized replication hypothesis: genes sensitive to stoichiometric relationships will be replicated simultaneously to maintain stoichiometry. In support of this hypothesis, we observe that genes encoding the same protein complex have similar replication timing, but surprisingly, only in fast-proliferating cells such as embryonic stem cells and cancer cells. The synchronized replication observed in cancer cells, but not in slow-proliferating differentiated cells, is due to convergent evolution during tumorigenesis that restores synchronized replication timing within protein complexes. Collectively, our study reveals that the selection for dosage balance during S phase plays an important role in the optimization of the replication-timing program; that this selection is relaxed during differentiation as the cell cycle is elongated, and restored as the cell cycle shortens during tumorigenesis.



2009 ◽  
Vol 191 (8) ◽  
pp. 2675-2682 ◽  
Author(s):  
Xiangzhen Li ◽  
Qingwei Luo ◽  
Neil Q. Wofford ◽  
Kimberly L. Keller ◽  
Michael J. McInerney ◽  
...  

ABSTRACT Three mutants deficient in hydrogen/formate uptake were obtained through screening of a transposon mutant library containing 5,760 mutants of Desulfovibrio desulfuricans G20. Mutations were in the genes encoding the type I tetraheme cytochrome c 3 (cycA), Fe hydrogenase (hydB), and molybdopterin oxidoreductase (mopB). Mutations did not decrease the ability of cells to produce H2 or formate during growth. Complementation of the cycA and mopB mutants with a plasmid carrying the intact cycA and/or mopB gene and the putative promoter from the parental strain allowed the recovery of H2 uptake ability, showing that these specific genes are involved in H2 oxidation. The mop operon encodes a periplasm-facing transmembrane protein complex which may shuttle electrons from periplasmic cytochrome c 3 to the menaquinone pool. Electrons can then be used for sulfate reduction in the cytoplasm.





2019 ◽  
Vol 29 (12) ◽  
pp. 1929-1938 ◽  
Author(s):  
Ying Chen ◽  
Ke Li ◽  
Xiao Chu ◽  
Lucas B. Carey ◽  
Wenfeng Qian


Author(s):  
Werner Kühlbrandt ◽  
Da Neng Wang ◽  
K.H. Downing

The light-harvesting chlorophyll-a/b protein complex (LHC-II) is the most abundant membrane protein in the chloroplasts of green plants where it functions as a molecular antenna of solar energy for photosynthesis. We have grown two-dimensional (2d) crystals of the purified, detergent-solubilized LHC-II . The crystals which measured 5 to 10 μm in diameter were stabilized for electron microscopy by washing with a 0.5% solution of tannin. Electron diffraction patterns of untilted 2d crystals cooled to 130 K showed sharp spots to 3.1 Å resolution. Spot-scan images of 2d crystals were recorded at 160 K with the Berkeley microscope . Images of untilted crystals were processed, using the unbending procedure by Henderson et al . A projection map of the complex at 3.7Å resolution was generated from electron diffraction amplitudes and high-resolution phases obtained by image processing .A difference Fourier analysis with the same image phases and electron diffraction amplitudes recorded of frozen, hydrated specimens showed no significant differences in the 3.7Å projection map. Our tannin treatment therefore does not affect the structural integrity of the complex.



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