Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects.

ABSTRACT: A significant current challenge in human genetics is the identification of interacting genetic loci mediating complex polygenic disorders. One of the best characterized polygenic diseases is Down syndrome (DS), which results from an extra copy of part or all of chromosome 21. A short interval near the distal tip of chromosome 21 contributes to congenital heart defects (CHD), and a variety of indirect genetic evidence suggests that multiple candidate genes in this region may contribute to this phenotype. We devised a tiered genetic approach to identify interacting CHD candidate genes. We first used the well vetted Drosophila heart as an assay to identify interacting CHD candidate genes by expressing them alone and in all possible pairwise combinations and testing for effects on rhythmicity

SUBMITTER: Grossman TR 

PROVIDER: S-EPMC3207880 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature