ヒトの女性生殖線に刻印される世界的な障害である
Hannah Judson1, Bruce E Hayward, Eamonn Sheridan
1University of Leeds, Molecular Medicine Unit, St. James's University Hospital, UK.
Nature
|April 5, 2002
まとめ
新しく特定された母性効果変異は,複数の遺伝子に影響を及ぼす世界的なインプリントの欠陥を引き起こす. これは,ヒダチド型モルに似た異常な発達につながり,インプリント要因の洞察を提供します.
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
- 発達生物学 発達生物学について
背景:
- インプリントされた遺伝子は,正常な発達に不可欠な,親の起源特異的な発現を示します.
- インプリント装置の欠陥は,ヒトの遺伝性シンドロームを引き起こし,典型的にはシス作用の要素を含む.
- 以前のインプリントの欠陥は,隣接するゲノム領域に影響を与えた.
研究 の 目的:
- 小説に継承されたグローバルインプリントの欠陥を報告するために.
- 複数の場所でのインプリントを妨害するリセッシブな母性効果変異を調査する.
- 母親のインプリントに関与するトランス作用の卵細胞因子を特定する.
主な方法:
- 衰退的な母性効果変異の分析.
- 多重で連続しないインプリントロシオにおける表遺伝的変化の特徴化.
- 結果となる概念のフェノタイプの評価.
主要な成果:
- この突然変異は,グローバル・インプリント・デフェクトを引き起こし,複数の場所での表遺伝子パターンを変化させます.
- 母親にインプリントされた遺伝子は,母親のアレルに父親のエピジェネティックパターンを採用した.
- コンセプションは,アンドロゲン性完全ヒダチディフォームモールと区別できないフェノタイプを示した.
結論:
- この障害は,最初に説明された遺伝的グローバルインプリントの欠陥を表しています.
- これは,母親のインプリントのトランス作用因子を研究するための遺伝モデルを提供します.
- この欠陥を理解することは,インプリントの確立に不可欠な卵細胞因子を特定するのに役立ちます.
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関連する概念動画
Imprinting
Behavioral imprinting is observed in some newborn animals and occurs when they develop strong and specific attachments to another animal (usually a parent) following brief, early-life exposures. Offspring imprint onto parents within a brief period after birth or hatching; this time window is called the critical period. Once imprinting occurs, the bond established between the parents and their offspring is usually long-lasting.
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.
Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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.
Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
