2003). Scientists estimate that 15–60 percent of human genetic diseases involve splicing mutations, either through direct mutation of the splice-site signals or through disruption of other ...

A team of international scientists has developed a method to predict the risk of developing cancer from a blood disorder ...

Synonymous mutations can remove binding sites for splicing proteins or create new ones, or change the rate of splicing overall. For instance, one recent study reported a synonymous mutation in the ...

Cells have a natural editing system that allows them to rearrange genetic instructions to create different proteins from the ...

Many human diseases are caused by point mutations that affect RNA splicing. It has been observed that nonsense mutations that generate premature termination of translation products can drive the use ...

Previous work has shown that mutation or deletion of one of the LUC7 proteins that bind to right-handed splice sites is linked to blood cancers, including about 10% of acute myeloid leukemias (AMLs).

Alternative splicing (AS) of pre-mRNA plays a crucial role in tissue-specific gene regulation, with disease implications due to splicing defects. Predicting and manipulating AS can therefore uncover ...

Plants survive cold by adjusting at cellular level. Scientists discovered that the PORCUPINE protein helps plants adapt to ...

However, new evidence indicates that even some synonymous mutations are subject to constraint, often because they affect splicing and/or mRNA stability. This has implications for understanding ...

Included in the NGS assay are the regions covering >65 different deep intronic splice mutations (which reside beyond the +/-50 intronic base pairs that flank all exons). Validation of the full panel ...