人类皮层发育中的性别差异与神经发育障碍的遗传风险相交
Kelsey Hennick1,2,3,4,5,6,7, Yang Sui8,7, Druha Karunakaran9
1Department of Neurological Surgery, University of California, San Francisco, CA 94143, USA.
bioRxiv : the preprint server for biology
|September 15, 2025
概括
自闭症显示了性别差异的脆弱性. 这项研究揭示了X染色体基因和基因表达模式在发育中的大脑中有助于性别偏差自闭症风险.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 自闭症谱系障碍 (ASD) 是高度遗传的,在男性中更频繁地被诊断出来.
- 了解神经发育障碍 (NDD) 中的性别偏见脆弱性至关重要.
研究的目的:
- 确定NDD脆弱性的性别差异背后的分子机制.
- 调查产前大脑发育在性别偏差自闭症风险中的作用.
主要方法:
- 从男性和女性样本中生成人类发育中的大脑皮层的转录和表观基因组资料.
- 在自闭症个体中交叉的性别偏差分子签名与de novo突变.
- 构建了X链接NDD风险基因的基因调控图.
主要成果:
- 在女性中,NDD风险基因表达更高,MEF2C被确定为关键的转录因子.
- X染色体基因对NDD病理生物学有显著的贡献.
- 确定了不同的脆弱性机制:女性的编码变化和男性的非编码变化.
结论:
- X染色体在大脑发育中的性别差异和NDD脆弱性中起着重要作用.
- 提出了一个模型,其中编码变化驱动女性偏见的NDD风险,而非编码变化驱动男性偏见的风险.
相关概念视频
Human Genetics
1.5K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.5K
Sex-linked Disorders
108.3K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
108.3K
Biological Causes of Schizophrenia
507
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
507
The Ratio of X Chromosome to Autosomes
9.4K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
9.4K
X and Y Chromosomes
29.4K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
29.4K
Biological Influences on Intelligence
486
Intelligence is often thought to be linked to brain size, but the relationship is more complex than that. While brain size does correlate modestly with some abilities, like verbal skills, the connection is weaker for others, such as spatial reasoning. Other factors, like brain structure, also play crucial roles. For instance, despite Einstein's smaller-than-average brain, his parietal cortex, which is involved in spatial reasoning, was 15% wider, suggesting that neural density might matter...
486


