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Sex differences in gene expression in the human fetal brain

O'Brien, Heath, Hannon, Eilis, Jeffries, Aaron R., Davies, William, Hill, Matthew J., Anney, Richard, O'Donovan, Michael, Mill, Jonathan and Bray, Nicholas 2019. Sex differences in gene expression in the human fetal brain. bioRxiv , -. 10.1101/483636

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Widespread structural, chemical and molecular differences have been reported between the male and female human brain. Although several neurodevelopmental disorders are more commonly diagnosed in males, little is known regarding sex differences in early human brain development. Here, we used RNA sequencing data from a large collection of human brain samples from the second trimester of gestation (N = 120) to assess sex biases in gene expression within the human fetal brain. In addition to 43 genes (102 Ensembl transcripts) transcribed from the Y-chromosome in males, we detected sex differences in the expression of 2558 autosomal genes (2723 Ensembl transcripts) and 155 genes on the X-chromosome (207 Ensembl transcripts) at a false discovery rate (FDR) < 0.1. Genes exhibiting sex-biased expression in human fetal brain are enriched for high-confidence risk genes for autism and other developmental disorders. Male-biased genes are enriched for expression in neural progenitor cells, whereas female-biased genes are enriched for expression in Cajal-Retzius cells and glia. All gene- and transcript-level data are provided as an online resource (available at through which researchers can search, download and visualize data pertaining to sex biases in gene expression during early human brain development.

Item Type: Article
Date Type: Published Online
Status: Submitted
Schools: Psychology
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Cold Spring Harbor Laboratory
Funders: Medical Research Council, Wellcome Trust
Date of Acceptance: 21 March 2019
Last Modified: 20 May 2021 01:32

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