Alternative splicing and gene co-expression network-based analysis of dizygotic twins with autism-spectrum disorder and their parents
GENOMICS, cilt.113, sa.4, ss.2561-2571, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 113 Sayı: 4
- Basım Tarihi: 2021
- Doi Numarası: 10.1016/j.ygeno.2021.05.038
- Dergi Adı: GENOMICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
- Sayfa Sayıları: ss.2561-2571
- Anahtar Kelimeler: Autism, Autism spectrum disorder, Alternative splicing, Co-expression networks, RNA-sequencing, Twin
- Dokuz Eylül Üniversitesi Adresli: Evet
Özet
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high heritability, however, understanding the complexity of the underlying genetic basis has proven to be a challenging task. We hypothesized that dissecting the aberrations in alternative splicing (AS) and their effects on expression networks might provide insight. Therefore, we performed AS and co-expression analyses of total RNA isolated from Peripheral Blood Mononuclear Cells (PBMCs) of two pairs of dizygotic (DZ) twins with non-syndromic autism and their parents. We identified 183 differential AS events in 146 genes, seven of them being Simons Foundation Autism Research Initiative (SFARI) Category 1-3 genes, three of which had previously been reported to be alternatively spliced in ASD post-mortem brains. Gene co-expression analysis identified 7 modules with 513 genes, 5 of which were SFARI Category 1 or Category 2 genes. Among differentially AS genes within the modules, ZNF322 and NR4A1 could be potentially interesting targets for further investigations.