Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).

ABSTRACT:

Background

The 3'-untranslated region (3'-UTR) of mRNA contains regulatory elements that are essential for the appropriate expression of many genes. These regulatory elements are involved in the control of nuclear transport, polyadenylation status, subcellular targetting as well as rates of translation and degradation of mRNA. Indeed, 3'-UTR mutations have been associated with disease, but frequently this region is not analyzed. To gain insights into congenital heart disease (CHD), we have been analyzing cardiac-specific transcription factor genes, including GATA4, which encodes a zinc finger transcription factor. Germline mutations in the coding region of GATA4 have been associated with septation defects of the human heart, but mutations are rather rare. Previously, we identified

SUBMITTER: Reamon-Buettner SM 

PROVIDER: S-EPMC1933416 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature