アンジェルマン症候群における単親父性パターナルディソミー
S Malcolm1, J Clayton-Smith, M Nichols
1Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
Lancet (London, England)
|March 23, 1991
まとめ
染色体15の欠損に関連したエンジェルマン症候群とプラダー・ウィリー症候群は,ゲノムインプリントを証明しています. 染色体15の単親分裂は,親遺伝子の効果を強調し,明確なフェノタイプを引き起こす.
科学分野:
- 遺伝学 遺伝学とは
- 発達生物学 発達生物学とは
- 人間の生理学 人間生理学
背景:
- アンジェルマン症候群とプラダー・ウィリー症候群は,神経発達障害とは異なるものです.
- この2つの症候群は,染色体15の15q11-13領域の欠損と関連しています.
- 削除の親の起源は,特定の症候群を決定する.
研究 の 目的:
- アンジェルマン症候群とプラダー・ウィリー症候群の遺伝的根拠を調査する.
- 染色体15の疾患におけるゲノムインプリントの役割を調査する.
- アンジェルマン症候群におけるユニパレンタルディソミーの症例を分析する.
主な方法:
- アンジェルマン症候群とプラダー・ウィリー症候群の患者の臨床フェノタイプ化.
- 染色体15のデレーションとユニパレンタル・ディソミーを特定するための遺伝分析.
- 母親と父親の15染色体継承に関連するフェノタイプ効果の比較.
主要な成果:
- アンジェルマン症候群は,典型的には母性欠損または父性染色体15のディソミーに関連しています.
- プラダー・ウィリー症候群は,典型的には15号染色体の父性欠損または母性分裂症と関連しています.
- アンジェルマン症候群の2人の患者には, chromosome 15 の uniparental paternal disomy が示されました.
結論:
- ゲノムインプリントは人間の発達において重要な役割を果たしており,遺伝子は親の起源に基づいて異なる発現を示す.
- 染色体15の単親分裂は,独特の臨床的フェノタイプをもたらし,インプリントの重要性を強調しています.
- 単一の親から15染色体の2つのコピーを受け継ぐことは,正常な発達を保証せず,さらにインプリントメカニズムをサポートします.
関連する概念動画
01:58X-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.
01:29Nondisjunction
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.
02:30Genomic 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...
01:58X-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.
01:29Nondisjunction
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.
01:21Nondisjunction
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...