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Series GSE77798 Query DataSets for GSE77798
Status Public on Apr 13, 2017
Title Pathogenesis of Hypoplastic Left Heart Syndrome [RNA-seq]
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Congenital heart disease (CHD) is a prevalent birth defect affecting up to 1% of live births. While a genetic etiology is indicated by increased recurrence risk and association with chromosomal abnormalities, the genetics of CHD is poorly understood and likely complex. Here we show hypoplastic left heart syndrome (HLHS), a severe CHD with high morbidity/mortality, has a multigenic etiology. Analysis of 8 HLHS mutant mouse lines recovered from a large-scale mutagenesis screen showed no mutations are shared in common. In the *Ohia* mouse line, mutations in 2 genes, *Pcdha9*/*Sap130*, act synergistically to cause HLHS. Cardiomyocyte proliferation and differentiation defects likely act in concert with valve abnormalities to cause HLHS. Network analysis of mutations recovered in HLHS mice and 68 HLHS patients point to Notch signaling disruption, a pathway previously implicated in HLHS. These findings demonstrate large-scale mutagenesis is an effective systems approach for interrogating the complex genetics of human diseases.
Overall design Expression profiling using RNA-seq of 16 samples collected from both left ventricle (LV) and right ventricle (RV) of HLHS mice (n=1 for E13.5, E14.5 and E17.5) and their littermate controls (n=1 for E13.5, and n=2 for E14.5 and E17.5 each).
Contributor(s) Lo CW, Bais AS
Citation(s) 28530678
Submission date Feb 10, 2016
Last update date May 15, 2019
Contact name Cecilia W Lo
Organization name University of Pittsburgh
Department Developmental Biology
Street address 530 45th St., 8120 Rangos Research Center
City Pittsburgh
State/province PA
ZIP/Postal code 15201
Country USA
Platforms (1)
GPL13112 Illumina HiSeq 2000 (Mus musculus)
Samples (16)
GSM2059610 CTRL_635-260-2-LV
GSM2059611 CTRL_635-260-2-RV
GSM2059612 CTRL_635AP-121-2-LV
This SubSeries is part of SuperSeries:
GSE77799 The complex genetics of hypoplastic left heart syndrome
BioProject PRJNA311578
SRA SRP069882

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Supplementary file Size Download File type/resource
GSE77798_counts.txt.gz 652.0 Kb (ftp)(http) TXT
GSE77798_deResults.xlsx 5.3 Mb (ftp)(http) XLSX
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Raw data are available in SRA
Processed data are available on Series record

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