活性X染色体上の遺伝子体特異的メチル化
1Center for Human Genetic Research and Department of Medicine, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, MA 02114, USA. hellman@chgr.mgh.harvard.edu
まとめ
活性X染色体 (Xa) は,不活性X染色体 (Xi) よりも,遺伝子体内のDNAメチル化が有意に多く示される. この微分メチル化パターンは,遺伝子発現の可能性に影響を与える二重プログラムを示唆する.
科学分野:
- エピジェネティクス エピジェネティクス
- ゲノミクスゲノミクスとは
- 分子生物学は分子生物学である.
背景:
- DNAの微分メチル化は,表遺伝的遺伝子調節に不可欠である.
- 不活性X染色体 (Xi) のプロモーターCpG島でアレル固有のメチル化が知られている.
- 活性X (Xa) 染色体と非活性X (Xi) 染色体の全メチル化パターンは,ほとんど特徴づけられていない.
研究 の 目的:
- ヒトのアクティブX染色体と非アクティブX染色体のグローバルメチル化パターンを調査する.
- X染色体全体におけるアレル固有のメチレーションの分布と特徴を決定する.
主な方法:
- ヒトX染色体の1000以上の情報位置でアレル特異的分析を行った.
- 活性X (Xa) 染色体と非活性X (Xi) 染色体のメチル化パターンを比較した.
主要な成果:
- 活性X染色体 (Xa) は,非活性X染色体 (Xi) と比較して,2倍以上のアレル固有のメチル化を示す.
- このメチル化は主に遺伝子体内にあり,多数の隣接するCpGに影響します.
- X不活性化以前に,これらのゲン体メチル化部位はバイアレルメチル化されていた.
結論:
- 双方向メチル化-脱メチル化プログラムにより,XA特異的低メチル化がプロモーターで,遺伝子体内の高メチル化が確立されます.
- これらの発見は,グローバルなDNAメチル化パターンとX染色体上の遺伝子発現の可能性との関連を示しています.
関連する概念動画
Epigenetic Regulation
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Epigenetic Regulation
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
Epigenetic Regulation
Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Heterochromatin
The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions that take up more dye are called heterochromatin. Heterochromatin is further classified into two forms – constitutive heterochromatin and facultative heterochromatin.
Constitutive heterochromatin: It is a highly compact region of chromatin that is mostly concentrated in the centromere and telomere. Unlike euchromatin, the amino acid at 9th...
Constitutive heterochromatin: It is a highly compact region of chromatin that is mostly concentrated in the centromere and telomere. Unlike euchromatin, the amino acid at 9th...
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...
Euchromatin
The extent of chromatin compaction can be studied by staining chromatin using specific DNA binding dyes. Under the microscope, the dense-compacted regions take up more dye, appearing darker, while the less-compact areas take up less dye and appear lighter. Based on the compaction level, chromatins are classified into two primary forms – euchromatin and heterochromatin.
Euchromatin is the less dense region of the chromatin and stains lighter. Euchromatin contains histone H3 extensively...
Euchromatin is the less dense region of the chromatin and stains lighter. Euchromatin contains histone H3 extensively...


