TY - JOUR
T1 - Spatio-temporal roles of asd-associated variants in human brain development
AU - Kim, Yujin
AU - An, Joon Yong
N1 - Funding Information:
Funding: This work was supported by the Korea University Grant K1907561, the Korean NRF Grant 2017M3C7A1026959, and the Korean NRF Grant 2020M3C7A1017855.
PY - 2020/5
Y1 - 2020/5
N2 - 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 of de novo variants (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.
AB - 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 of de novo variants (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.
KW - Autism spectrum disorder (ASD)
KW - Autism spectrum disorders
KW - Gene pathway
KW - Multi-omics analysis
KW - Neurodevelopment
KW - Systems biology
KW - Whole-exome sequencing
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U2 - 10.3390/genes11050535
DO - 10.3390/genes11050535
M3 - Article
C2 - 32403330
AN - SCOPUS:85084627683
VL - 11
JO - Genes
JF - Genes
SN - 2073-4425
IS - 5
M1 - 535
ER -