Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression.

Abstract excerpt

Noncoding sequences constitute the major part of the human genome and also of pre-mRNAs. Single nucleotide variants in these regions are often overlooked, but may be responsible for much of the variation of phenotypes observed. Mutations in the noncoding part of pre-mRNAs often reveal new and meaningful insights into the regulation of cellular gene expression. Thus, the mechanistic analysis of the pathological...

Topics

• Alternative Splicing
• Gene Expression Regulation
• Humans
• Mutation
• RNA Splicing
• RNA, Untranslated