Researchers have shown that when parts of a genome known as enhancers are missing, the heart works abnormally, a finding that bolsters the importance of DNA segments once considered “junk” because they do not code for specific proteins.
“The cardiac changes that we observed in knockout mice lacking these enhancers highlight the role of noncoding sequences in processes that are important in human disease,” said study co-senior author Axel Visel, senior staff scientist and one of three lead researchers at the Mammalian Functional Genomics Laboratory, part of Berkeley Lab’s Environmental Genomics and Systems Biology (EGSB) Division. “Identifying and interpreting sequence changes affecting noncoding sequences is increasingly a challenge in human genetics. The genome-wide catalog of heart enhancers provided through this study will facilitate the interpretation of human genetic data sets.” Paper. (public access) – Diane E. Dickel, et al., Genome-wide compendium and functional assessment of in vivo heart enhancers. Nature Communications, 2016; 7: 12923 DOI: 10.1038/NCOMMS12923 More.
See also: Formerly thought “junk DNA,” lncRNA guides development of heart muscle cells
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