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| Status |
Public on Dec 28, 2017 |
| Title |
Excessive UBE3A dosage impairs fine-tuning of retinoid acid signaling in autism spectrum disorders |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
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| Summary |
The autism spectrum disorders (ASD) are a collection of disorders with heterogeneous etiology, exhibiting common traits including impaired social interactions and communications, repetitive behaviors. 15q11-q13 copy number variations (CNV) were found in 1-3% of ASD cases; of which the detailed mechanism of the major contributor UBE3A gene acted still remained elusive. Here we identified a key enzyme in RA synthesis, negatively regulated in ubiquitination-dependent mode promoted by UBE3A. Our data provide evidences linking UBE3A hyperactivity with ASD phenotypes, with implications for understanding ASD etiology and providing potential interventions in ASD clinical therapy.
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| Overall design |
To identify whether CNV variations existed within different patients diagnosed with ASD, genomic DNA were extracted from three patient blood samples and investigated using Human660W-Quad Beadchip assay.
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| Contributor(s) |
Guo H, Xia K, Xu X, Hu R |
| Citation(s) |
29076503 |
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| Submission date |
Jan 05, 2017 |
| Last update date |
Dec 29, 2017 |
| Contact name |
Ronggui Hu |
| E-mail(s) |
coryhu@sibcb.ac.cn
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| Organization name |
Institute of Biochemsitry and Cell Biology
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| Street address |
Room 405, New Biochemistry Building, 320 Yue-yang Road, Shanghai, China
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| City |
Shanghai |
| State/province |
Shanghai |
| ZIP/Postal code |
200031 |
| Country |
China |
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| Platforms (1) |
| GPL8888 |
Illumina Human660W-Quad v1.0 BeadChip |
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| Samples (3) |
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| Relations |
| BioProject |
PRJNA360292 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE93207_RAW.tar |
22.5 Mb |
(http)(custom) |
TAR (of IDAT) |
| GSE93207_X_Y_raw.txt.gz |
27.0 Mb |
(ftp)(http) |
TXT |
| GSE93207_processed_data.txt.gz |
38.1 Mb |
(ftp)(http) |
TXT |
| Processed data are available on Series record |
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