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Spatio-Temporal Roles of ASD-Associated Variants in Human Brain Development

Authors
Kim, YujinAn, Joon-Yong
Issue Date
5월-2020
Publisher
MDPI
Keywords
autism spectrum disorders; autism spectrum disorder (ASD); neurodevelopment; systems biology; whole-exome sequencing; multi-omics analysis; gene pathway
Citation
GENES, v.11, no.5
Indexed
SCIE
SCOPUS
Journal Title
GENES
Volume
11
Number
5
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/56186
DOI
10.3390/genes11050535
ISSN
2073-4425
Abstract
Transcriptional regulation of the genome arguably provides the basis for the anatomical elaboration and dynamic operation of the human brain. It logically follows that genetic variations affecting gene transcription contribute to mental health disorders, including autism spectrum disorder (ASD). A number of recent studies have shown the role ofde novovariants (DNVs) in disrupting early neurodevelopment. However, there is limited knowledge concerning the role of inherited variants during the early brain development of ASD. In this study, we investigate the role of rare inherited variations in neurodevelopment. We conducted co-expression network analyses using an anatomically comprehensive atlas of the developing human brain and examined whether rare coding and regulatory variants, identified from our genetic screening of Australian families with ASD, work in different spatio-temporal functions.
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