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人类早期胎儿大脑发育中的转录组性别差异。

Transcriptomic sex differences in early human fetal brain development.

作者信息

Buonocore Federica, Suntharalingham Jenifer P, Ogunbiyi Olumide K, Jones Aragorn, Moreno Nadjeda, Niola Paola, Brooks Tony, Solanky Nita, Dattani Mehul T, Del Valle Ignacio, Achermann John C

机构信息

Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK.

Department of Histopathology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, WC1N 3JH, UK.

出版信息

Commun Biol. 2025 Apr 25;8(1):664. doi: 10.1038/s42003-025-08070-3.

DOI:10.1038/s42003-025-08070-3
PMID:40281071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12032161/
Abstract

The influence of sex chromosomes and sex hormones on early human brain development is poorly understood. We therefore undertook transcriptomic analysis of 46,XY and 46,XX human brain cortex samples (n = 64) at four different time points between 7.5 and 17 weeks post conception (wpc), in two independent studies. This developmental period encompasses the onset of testicular testosterone secretion in the 46,XY fetus (8wpc). We show differences in sex chromosome gene expression including X-inactivation genes (XIST, TSIX) in 46,XX samples; core Y chromosome genes (n = 18) in 46,XY samples; and two Y chromosome brain specific genes, PCDH11Y and RP11-424G14.1. PCDH11Y (protocadherin11 Y-linked) regulates excitatory neurons; this gene is unique to humans and is implicated in language development. RP11-424G14.1 is a long non-coding RNA. Fewer differences in sex hormone pathway-related genes are seen. The androgen receptor (AR, NR3C4) shows cortex expression in both sexes, which decreases with age. Global cortical sex hormone effects are not seen, but more localized AR mechanisms may be important with time (e.g., hypothalamus). Taken together, our data suggest that limited but potentially important sex differences occur during early human fetal brain development.

摘要

性染色体和性激素对人类早期大脑发育的影响目前还知之甚少。因此，我们在两项独立研究中，对受孕后7.5至17周（wpc）四个不同时间点的46,XY和46,XX人类大脑皮质样本（n = 64）进行了转录组分析。这个发育阶段包括46,XY胎儿（8wpc）睾丸睾酮分泌的开始。我们发现了性染色体基因表达的差异，包括46,XX样本中的X染色体失活基因（XIST、TSIX）；46,XY样本中的核心Y染色体基因（n = 18）；以及两个Y染色体脑特异性基因，PCDH11Y和RP11-424G14.1。PCDH11Y（原钙黏蛋白11 Y连锁）调节兴奋性神经元；该基因是人类特有的，与语言发育有关。RP11-424G14.1是一种长链非编码RNA。在性激素途径相关基因中观察到的差异较少。雄激素受体（AR，NR3C4）在两性的皮质中均有表达，且随年龄增长而降低。未观察到全局性的皮质性激素效应，但随着时间推移，更局部的AR机制可能很重要（如下丘脑）。综上所述，我们的数据表明，在人类早期胎儿大脑发育过程中存在有限但可能重要的性别差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/9dea9e7bf612/42003_2025_8070_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/f59b94134e96/42003_2025_8070_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/66d5a9053459/42003_2025_8070_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/fd920d2e33a4/42003_2025_8070_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/223e93797df4/42003_2025_8070_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/9ec897d3efbd/42003_2025_8070_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/9210a78f162d/42003_2025_8070_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/9dea9e7bf612/42003_2025_8070_Fig7_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/f59b94134e96/42003_2025_8070_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/66d5a9053459/42003_2025_8070_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/fd920d2e33a4/42003_2025_8070_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/223e93797df4/42003_2025_8070_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/9ec897d3efbd/42003_2025_8070_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/9210a78f162d/42003_2025_8070_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b3fc/12032161/9dea9e7bf612/42003_2025_8070_Fig7_HTML.jpg

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本文引用的文献

1
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Commun Biol. 2025 Feb 16;8(1):249. doi: 10.1038/s42003-025-07699-4.
2
Sex chromosomes and hormones independently influence healthy brain development but act similarly after cranial radiation.性染色体和激素独立影响健康的大脑发育，但在颅部放射后作用相似。
Proc Natl Acad Sci U S A. 2024 Sep 3;121(36):e2404042121. doi: 10.1073/pnas.2404042121. Epub 2024 Aug 29.
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Temporal sex specific brain gene expression pattern during early rat embryonic development.
大鼠胚胎发育早期的时间性性别特异性脑基因表达模式。
Front Cell Dev Biol. 2024 Jun 19;12:1343800. doi: 10.3389/fcell.2024.1343800. eCollection 2024.
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An integrated single-cell analysis of human adrenal cortex development.人类肾上腺皮质发育的单细胞整合分析。
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