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Integrative network analysis reveals biological pathways associated with Williams syndrome
Ryo Kimura1, Vivek Swarup2, Kiyotaka Tomiwa3,4,5
1Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Journal of Child Psychology and Psychiatry, and Allied Disciplines
|October 27, 2018
Summary
Genetic factors outside the Williams syndrome (WS) deletion region influence its complex phenotypes. Dysregulation in mRNA/microRNA networks contributes to WS variability, offering new insights into this neurodevelopmental disorder.
Area of Science:
- Genetics
- Neurobiology
- Molecular Biology
Background:
- Williams syndrome (WS) is a neurodevelopmental disorder caused by deletions on chromosome 7q11.23.
- WS presents with diverse physical, cognitive, and behavioral characteristics, but the genetic basis for this variability is not fully understood.
Purpose of the Study:
- To investigate the genetic underpinnings of phenotypic variability in Williams syndrome.
- To identify specific molecular alterations contributing to complex WS phenotypes.
Main Methods:
- Assessed neurobehavioral function in WS patients and controls.
- Utilized microarray, RNA-sequencing, and qRT-PCR on peripheral blood.
- Performed weighted gene co-expression network analysis and miRNA expression profiling.
Main Results:
- Identified four significant co-expression modules linked to WS phenotypes, with three upregulated modules containing genes outside the 7q11.23 region.
- Enriched modules involved B-cell activation, RNA processing, and RNA transport; BCL11A was a key gene.
- Observed an inverse correlation between upregulated mRNA modules and a downregulated miRNA module.
Conclusions:
- Suggests that mRNA/miRNA network dysregulation, particularly involving genes outside the critical 7q11.23 region, contributes to the complex phenotypes in Williams syndrome.
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