研究揭示X染色体对人类神经解剖学变异的影响
2021-07-27
美国国家心理健康研究所Armin Raznahan课题组揭示X染色体对人类神经解剖学变异的影响。相关论文于2021年7月22日在线发表在《自然—神经科学》杂志上。
据研究人员介绍,长期以来,人们假设X染色体对大脑有不成比例的影响,因为它富含在大脑中表达的基因,并与智力障碍有关。
Title: X-chromosome influences on neuroanatomical variation in humans
Author: Travis T. Mallard, Siyuan Liu, Jakob Seidlitz, Zhiwei Ma, Dustin Moraczewski, Adam Thomas, Armin Raznahan
Issue&Volume: 2021-07-22
Abstract: The X-chromosome has long been hypothesized to have a disproportionate influence on the brain based on its enrichment for genes that are expressed in the brain and associated with intellectual disability. Here, we verify this hypothesis through partitioned heritability analysis of X-chromosome influences (XIs) on human brain anatomy in 32,256 individuals from the UK Biobank. We first establish evidence for dosage compensation in XIs on brain anatomy—reflecting larger XIs in males compared to females, which correlate with regional sex-biases in neuroanatomical variance. XIs are significantly larger than would be predicted from X-chromosome size for the relative surface area of cortical systems supporting attention, decision-making and motor control. Follow-up association analyses implicate X-linked genes with pleiotropic effects on cognition. Our study reveals a privileged role for the X-chromosome in human neurodevelopment and urges greater inclusion of this chromosome in future genome-wide association studies.
DOI: 10.1038/s41593-021-00890-w
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