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Network‐based analysis using chromosomal microdeletion syndromes as a model
Author(s) -
Corrêa Thiago,
Feltes Bruno César,
Schinzel Albert,
Riegel Mariluce
Publication year - 2021
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31900
Subject(s) - interactome , computational biology , biology , biological network , gene regulatory network , systems biology , gene , disease , phenotype , genetics , human genetics , medicine , gene expression , pathology
Microdeletion syndromes (MSs) are a heterogeneous group of genetic diseases that can virtually affect all functions and organs in humans. Although systems biology approaches integrating multiomics and database information into biological networks have expanded our knowledge of genetic disorders, cytogenomic network‐based analysis has rarely been applied to study MSs. In this study, we analyzed data of 28 MSs, using network‐based approaches, to investigate the associations between the critical chromosome regions and the respective underlying biological network systems. We identified MSs‐associated proteins that were organized in a network of linked modules within the human interactome. Certain MSs formed highly interlinked self‐contained disease modules. Furthermore, we observed disease modules involving proteins from other disease groups in the MSs interactome. Moreover, analysis of integrated data from 564 genes located in known chromosomal critical regions, including those contributing to topological parameters, shared pathways, and gene–disease associations, indicated that complex biological systems and cellular networks may underlie many genotype to phenotype associations in MSs. In conclusion, we used a network‐based analysis to provide resources that may contribute to better understanding of the molecular pathways involved in MSs.