臓器は単純に男女で分類できない:性別特異的特性のモザイク(Organs cannot simply be classified as male or female)

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2025-09-18 マックス・プランク研究所

マックス・プランク進化生物学研究所の研究は、ヒトやマウスの臓器における性差が「モザイク状」であることを示した。精巣と卵巣は明確に区別されるが、心臓・肝臓・脂肪組織など多くの臓器では雄雌の遺伝子発現パターンが大きく重なり、個体内でも臓器ごとに「より男性的」「より女性的」特性が混在する。研究チームは臓器ごとの性特異的遺伝子活性を数値化する「Sex-Bias Index(SBI)」を開発し、性別を二分法的に分類できないことを定量的に示した。また、性特異的遺伝子は進化的に急速に変化する傾向があり、マウス種間やヒトとマウス間でも大きく入れ替わることが確認された。この成果は、性を固定的な二分構造ではなく連続体として捉える必要性を裏付け、医学研究や臨床への応用に影響を与えるとされる。

臓器は単純に男女で分類できない:性別特異的特性のモザイク(Organs cannot simply be classified as male or female)
The graphic shows that sex is only clearly binary in the sexual organs. In all other tissues, male and female traits strongly overlap, forming mosaic-like patterns – similar to body height, which differs on average but overlaps greatly between individuals.
© Diethard Tautz

<関連情報>

体細胞組織の単純な二元性分類を覆す、性偏向遺伝子発現パターンの急速な進化的交代と重複する変動性 Fast evolutionary turnover and overlapping variances of sex-biased gene expression patterns defy a simple binary sex classification of somatic tissues

Chen Xie,Sven Künzel,Diethard Tautz
eLife  Published:Sep 17, 2025
DOI:https://doi.org/10.7554/eLife.99602.4

Abstract

Sexual dimorphism in phenotypes is largely driven by genes with sex-biased expression, spanning from key regulators to numerous organ-specific effectors. Current understanding is limited regarding the evolutionary dynamics of these genes in somatic tissues that generate the adult phenotype versus gonadal organs that are required for reproduction. Here, we investigate sex-biased gene expression and micro-evolutionary patterns of these genes in populations of subspecies and species of wild mice (genus Mus) that were raised under controlled conditions. We find a faster evolutionary turnover of sex-biased gene expression in somatic tissues, but not in the gonads, when compared to the turnover of non-sex-biased genes. We introduce a sex-biased gene expression index (SBI) to quantify individual variances. We find a range from binary to overlapping SBI patterns across individuals. SBI values do not correlate between organs of the same individuals, thus supporting a mosaic model of somatic sex determination. Comparison with data from humans shows mostly fewer sex-biased genes compared to mice and strongly overlapping SBI distributions between the somatic organs of the sexes. We conclude that adult individuals are composed of a mosaic spectrum of sex characteristics in their somatic tissues that should not be cumulated into a simple binary classification.

細胞遺伝子工学
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