人类x -失活的整个生物体景观。

IF 6.4 1区生物学 Q1 BIOLOGY

eLife Pub Date : 2025-07-17 DOI:10.7554/eLife.102701

Bjorn Gylemo, Maike Bensberg, Colm E Nestor

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引用次数: 0

摘要

由于雌性在x失活时是嵌合的，直接测定x连锁等位基因在大块组织中的表达通常是不可行的。使用非镶嵌（完全倾斜）的女性进行x -失活（nmXCI）已被证明是一种强大的自然遗传系统，用于分析人类x -失活。通过结合一个先前报道的和两个新发现的nmXCI雌性的等位基因分辨率数据，我们直接确定了30个正常组织中380个x连锁基因的x失活状态，其中198个基因是首次直接确定XCI状态的。我们的发现代表了我们对人类x -失活的理解的实质性进展，并将为剖析人类特征中性别偏见的遗传起源提供参考。此外，我们的研究表明，nmXCI是人类女性群体的一个共同特征，对人类x连锁性状的外显率和表达性具有深远的影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A whole-organism landscape of X-inactivation in humans.

As females are mosaic for X-inactivation, direct determination of X-linked allelic expression in bulk tissues is typically unfeasible. Using females that are non-mosaic (completely skewed) for X-inactivation (nmXCI) has proven a powerful and natural genetic system for profiling X-inactivation in humans. By combining allele-resolution data for one previously reported and two newly identified nmXCI females, we directly determined X-inactivation status of 380 X-linked genes across 30 normal tissues, including 198 genes for which XCI status is directly determined for the first time. Our findings represent a substantial advance in our understanding of human X-inactivation and will serve as a reference for dissecting the genetic origin of sex bias in human traits. In addition, our study reveals nmXCI as a common feature of the human female population, with profound consequences for the penetrance and expressivity of X-linked traits in humans.

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来源期刊

eLife BIOLOGY-

CiteScore

12.90

自引率

3.90%

发文量

3122

审稿时长

17 weeks

期刊介绍： eLife is a distinguished, not-for-profit, peer-reviewed open access scientific journal that specializes in the fields of biomedical and life sciences. eLife is known for its selective publication process, which includes a variety of article types such as: Research Articles: Detailed reports of original research findings. Short Reports: Concise presentations of significant findings that do not warrant a full-length research article. Tools and Resources: Descriptions of new tools, technologies, or resources that facilitate scientific research. Research Advances: Brief reports on significant scientific advancements that have immediate implications for the field. Scientific Correspondence: Short communications that comment on or provide additional information related to published articles. Review Articles: Comprehensive overviews of a specific topic or field within the life sciences.