タンキラゼは,ケルビズムにおけるSH3BP2に対する支配力を失っている
Agnes D Berendsen1, Bjorn R Olsen
1Department of Developmental Biology, Harvard School of Dental Medicine, 188 Longwood Avenue, Boston, MA 02115, USA.
Cell
|December 14, 2011
まとめ
SH3BP2遺伝子の変異は,タンキラーゼとの相互作用を妨害することによって,ケルビズムを引き起こす. この相互作用を理解することで,骨の改造がどのように調節されるのかが明らかになり,新たな治療目標が特定されます.
科学分野:
- 遺伝学 遺伝学とは
- 分子生物学は分子生物学である.
- バイオケミストリー バイオケミストリー
背景:
- ケルビズム症は,SH3BP2遺伝子の変異に関連した異常な骨の改造によって特徴づけられる珍しい遺伝疾患です.
- SH3BP2タンパク質は,アダプタータンパク質として作用し,細胞の信号伝達経路に役割を果たします.
さらに関連する動画
10:44Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs
Published on: May 15, 2019
07:22The Development and Application of Biophysical Assays for Evaluating Ternary Complex Formation Induced by Proteolysis Targeting Chimeras (PROTACS)
Published on: January 12, 2024
関連する概念動画
Conservative Site-specific Recombination and Phase Variation
Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
The recognition sites for Cre recombinase called LoxP...
The recognition sites for Cre recombinase called LoxP...
Chirality in Nature
Chirality is the most intriguing yet essential facet of nature, governing life’s biochemical processes and precision. It can be observed from a snail shell pattern in a macroscopic world to an amino acid, the minutest building block of life. Most of the snails around the world have right-coiled shells because of the intrinsic chirality in their genes. All the amino acids present in the human body exist in an enantiomerically pure state, except for glycine - the sole achiral amino acid. The...
Destabilization of Microtubules
The destabilization of microtubules can occur during different stages of the microtubule lifecycle, such as nucleation or elongation. It can take place at either end of the microtubule or in the microtubule lattices as a whole. The lifespan of individual microtubules within a cell varies according to the cell type and stage of the cell cycle. During interphase, the lifespan of the microtubule is about 30 minutes, while during cell division, it is about 15 minutes. In axonal microtubules of...
Separation of Sister Chromatids
At the transition from prophase to metaphase, there is a reduction in cohesion along the chromosomal arms, resulting in the resolution of sister chromatids. However, residual cohesin connections remain to hold the sister chromatids together until the transition from metaphase to anaphase. The residual connection prevents any premature separation of sister chromatids, blocking the risks of aneuploidy within the daughter cells.
At the onset of anaphase, separase, a proteolytic enzyme, is...
At the onset of anaphase, separase, a proteolytic enzyme, is...
