ターナー症候群の証拠は,認知機能に影響を与えるインプリントされたX-リンクされた場所の証拠です
D H Skuse1, R S James, D V Bishop
1Behavioural Sciences Unit, Institute of Child Health, London, UK. dskuse@ich.ucl.ac.uk
Nature
|June 12, 1997
まとめ
ターナー症候群 (45,X) の父親のX染色体は,より良い社会的適応と認知能力と相関しています. これは,X染色体にインプリントされた遺伝子が社会的認知に影響を及ぼし,神経発達障害における性差異を潜在的に説明することを示唆しています.
科学分野:
- 遺伝学 遺伝学とは
- 神経科学は神経科学である.
- 発達生物学 発達生物学について
背景:
- ターナー症候群 (45,X) は,X染色体の削除を含む女性の遺伝疾患です.
- 知能は通常正常であるが,社会的適応の問題が頻繁に観察される.
研究 の 目的:
- ターナー症候群の女性における社会的適応と認知機能に対するX染色体起源 (母性対父性) の影響を調査する.
- 社会的認知に関連するX染色体上の潜在的なインプリントされた遺伝的場所を特定する.
主な方法:
- ターナー症候群 (45,X) の女性80人を研究し,母性 (45,X[m]) または父性 (45,X[p]) のX染色体由来で分類しました.
- ソーシャル・インタラクション・スキルとエグゼクティブ・機能に焦点を当てた神経心理学的評価を実施しました.
- 部分X染色体欠損の女性8人を対象に分子調査を行った.
主要な成果:
- 父から受け継いだX染色体 (45,X[p]) を持つ女性では,社会的適応性が著しく向上した.
- 45,X[p]グループは,優れた言語能力と,より高いレベルのエグゼクティブ機能能力を発揮した.
- 証拠によると,X染色体にインプリントされた場所があり,X不活性化から逃れ,社会的認知に影響を与えると示唆されています.
結論:
- X染色体上の父性発現のインプリントされた遺伝子ロクスは,社会的認知において役割を果たしている可能性が高い.
- この発見は,自閉症などの言語と社会的認知に影響を与える神経発達障害に対する46,XYの男性の脆弱性の増加を説明する可能性がある.
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