ISSN 1546-1718 (online) These mechanisms depend on the role o By contrast, immune-related genes that are associated with ASD-eQTLs within the fetal cortex have been implicated in the processing of both endogenous and exogenous antigens (Supplementary Table 7). Ensembl protein (STRING)33 and transcript identifiers (GTEx and Walker et al. A. Sey, Benxia Hu, Hyejung Won, Anja Barei, Alexander Jolyon Nash, Boris Lenhard, Gokul Ramaswami, Hyejung Won, Daniel H. Geschwind, Michael J. Gandal, Jillian R. Haney, Daniel H. Geschwind, Mirolyuba Ilieva, Blanca Irene Aldana, Tanja Maria Michel, Jhih-Rong Lin, Yingjie Zhao, Zhengdong D. Zhang, Esra Sefik, Ryan H. Purcell, Jennifer G. Mulle, Scientific Reports Front. By submitting a comment you agree to abide by our Terms and Community Guidelines. These differences can underlie susceptibility to common diseases, human traits, and differential responses to drugs. These findings indicate that there may be developmental stage-specific differences in the impact of the immune system on ASD risk and on-going severity. Functional annotation of ASD-associated eQTLs revealed that they are involved in diverse regulatory processes. DiStasio, M. M., Nagakura, I., Nadler, M. J. Genes regulated by Polycomb-repressed ASD-associated eQTLs in the fetal cortex. These simple changes can be of transition or transversion type and they occur throughout the genome at a frequency of about one in 1,000 bp. However, our study also has several limitations. Pepper, K. L. et al. Cell 167, 1481-1494.e18 (2016). Article Careers. The Gene module within AutDB is a manually curated reference set of ASD-linked genes that was first released in 2007. PubMed Genes that have been curated as being involved in ASD (AutDB31; http://autism.mindspec.org/autdb/Welcome.do, assessed on 16/11/2020). When arising in genes, SNPs can impact on mRNA splicing, nucleo-cytoplasmic export, stability, and translation. Science 353, 772777 (2016). 48, 12791283 (2016). Article PPI network analyses have been used to discover essential proteins, clusters of proteins with similar, overlapping or combinatorial functions, and associated pathways involved in tissue-specific contributions to ASD etiology17,18. Weissbrod, O. et al. PubMed Central Genes were inverse normal transformed across samples. Neuron 83, 518532 (2014). Genet. Single nucleotide polymorphism, or SNP. Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Clipboard, Search History, and several other advanced features are temporarily unavailable. Article eCollection 2022. SF3B1 and THOC7 were also associated with ASD-eQTLs within the adult cortex. Eleven genes (i.e. To evaluate possible commonalities among ASD and other phenotypes at the eQTL level in the fetal and adult cortex, we intersected the identified ASD-associated eQTLs with SNPs associated with other traits in the GWAS catalog (p<5108, assessed on 26/08/2020).
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