Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome.

ABSTRACT: 22q11.2 deletion syndrome (22q11DS) results from a hemizygous microdeletion on chromosome 22 and is characterized by extensive phenotypic variability. Penetrance of signs, including congenital heart, craniofacial, and neurobehavioral abnormalities, varies widely and is not well correlated with genotype. The three-dimensional structure of the genome may help explain some of this variability. The physical interaction profile of a given gene locus with other genetic elements, such as enhancers and co-regulated genes, contributes to its regulation. Thus, it is possible that regulatory interactions with elements outside the deletion region are disrupted in the disease state and modulate the resulting spectrum of symptoms. COMT, a gene within the commonly deleted ~3 Mb region has been implicated

SUBMITTER: Zeitz MJ 

PROVIDER: S-EPMC3925693 | biostudies-literature | 2013 Nov-Dec

REPOSITORIES: biostudies-literature