X染色体選択におけるXist遺伝子の役割
Y Marahrens1, J Loring, R Jaenisch
1Whitehead Institute for Biomedical Research, Cambridge, Massachusetts 02142, USA.
Cell
|March 20, 1998
まとめ
Xist遺伝子は,雌性哺乳類のX染色体不活性化に不可欠である. 特定の削除により,Xistが明らかになる.
科学分野:
- 遺伝学 遺伝学とは
- エピジェネティクス エピジェネティクス
- 哺乳類生物学 哺乳類生物学について
背景:
- 雌性哺乳類では,ランダムなX染色体不活性化が重要な発達過程である.
- X-無活性特異トランスクリプト (Xist) 遺伝子は,選択メカニズムから下流に作用し,ヘテロクロマチニゼーションにとって重要なと考えられています.
研究 の 目的:
- X染色体の選択メカニズムにおけるXist遺伝子の役割を調査する.
- XistがX染色体の初期選択に関与しているかどうかを判断する.
主な方法:
- Xist遺伝子 (エクソン1〜5) の内部削除のためにヘテロジゴスである雌性哺乳類の生成.
- これらの異性卵性雌のX染色体不活性化パターンの分析.
主要な成果:
- Xist deletionのメスは,野生型X染色体の原発的非ランダム無活性化を示した.
- これは,Xist遺伝子には,選択メカニズムそのものに不可欠な要素が含まれていることを示しています.
結論:
- Xist遺伝子は,X染色体不活性化の選択メカニズムに直接的な役割を果たし,下流効果だけではありません.
- Xist内の特定された要素は,選択メカニズムに積極的な影響を及ぼし,現在のモデルに挑戦します.
さらに関連する動画
12:42Quick Fluorescent In Situ Hybridization Protocol for Xist RNA Combined with Immunofluorescence of Histone Modification in X-chromosome Inactivation
Published on: November 26, 2014
08:27A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
Published on: May 22, 2019
関連する概念動画
X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
Inheritance of Chromatin Structures
Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Dosage Compensation
In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will have...
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will have...
X-inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
