mutations tagged posts

Scientists have discovered how a mutated gene can affect the three-dimensional interactions of genes in the cell, leading to various forms of cancer. Inside the cell, DNA is tightly wrapped around proteins and packed in a complex, 3D structure that we call “chromatin.” Chromatin not only protects our genetic material from damage, but also organizes the entire genome by regulating the expression of genes in three dimensions, unwinding them to be presented to the cell’s gene-expression machinery and then winding them back in.

Inside the 3D chromatin structure there are certain regions called “topologically associating domains” or TADs...

Ratio of the CTCF and RAD21 ChIP-seq signals occurring within interacting enhancers and non-interacting enhancers, anchored at peaks for CTCF, RAD21, and the transcription factors CUX1 and HCFC1 for the K562 cell line.

Breakthrough technology opens the door to identifying new drug targets that could treat many genetic diseases. Scientists at the Gladstone Institutes have invented a new way to read and interpret the human genome. The computational method, TargetFinder, can predict where non-coding DNA-the DNA that does not code for proteins – interacts with genes. This technology helps researchers connect mutations in the so-called genomic “dark matter” with the genes they affect, potentially revealing new therapeutic targets for genetic disorders. Influence of features by region.

Lung cancer cell, ADAR1 extra copies of the gene are shown in green. In red the two normal copies of a control gene. Credit: IDIBELL

In human diseases, eventually DNA alterations modify proteins and they don’t do their normal function, either by excess or defect. But recently we have started to find alterations of proteins without an obvious damage of the gene that produces them. Manel Esteller, director of Epigenetics and Cancer Biology Program of the Bellvitge Biomedical Research Institute (IDIBELL), ICREA researcher and Professor of Genetics at the University of Barcelona provides an explanation for this phenomenon: existence of alterations in an intermediate molecule (RNA) which transfers the information contained in the DNA to protein.

“We found that 5-10% of lung tumors, instead of h...