DNA repair tagged posts

UCH-L3

Researchers at Mayo Clinic have identified an enzyme called UCHL3 that regulates the BRCA2 pathway, which is important for DNA repair. Results of this research are published online in Genes & Development. “DNA repair is a fundamental mechanism to prevent the accumulation of mutations in DNA and human disease,” says Zhenkun Lou, Ph.D., a molecular pharmacologist at Mayo Clinic.

“The BRCA2 pathway is important for DNA repair, and mutation of the BRCA2 gene is linked to increased cancer risk, especially breast cancer and ovarian cancer.” Dr. Lou says UCHL3 is highly expressed in some cancers, and mutated or deleted in other cancers. Cancer cells with high UCHL3 expression are resistant to chemotherapy; whereas, cancer cells with low UCHL3 are more sensitive to chemotherapy...

Overall structure of human PrimPol ternary complex with template-primer DNA and incoming dATP. The N-helix and modules ModN and ModC are shown in cartoon representation in dark blue, yellow, and cyan, respectively. The DNA is shown as gray sticks, and the Ca2+ ion is shown as a light blue sphere. The templating base T and the incoming dATP are shown in red. Yellow and cyan dashed lines depict unstructured regions in the ModN and ModC, respectively. The side chains of key catalytic active-site residues Asp114, Glu116, and Asp280 are highlighted in red. Secondary structure elements (α helices and β strands) are labeled in black.

A research team led by scientists at the Icahn School of Medicine at Mount Sinai (ISMMS) has solved the 3D structure of a key protein that helps damaged cellular D...

Workers representing the repair system known as nucleotide excision repair (NER), repairing DNA and snakes, representing proteins that bind DNA at gene promoters, potentially preventing them from doing this. Credit: Jackie Mostek

DNA repair is compromised at important regions of our genome, shedding new light on the human body’s capacity to repair DNA damage, UNSW medical scientists have discovered. Repairing damage in DNA from anything that causes a mutation, such as UV radiation and tobacco smoke, is a fundamental process that protects our cells from becoming cancerous.

The scientists analysed > 20 million DNA mutations from 1,161 tumours across 14 cancer types...

This image shows reduced levels of BRCA1 (red) in neurons (blue). Amyloid-beta plaques in the brain can deplete neurons of BRCA1, potentially contributing to cognitive deficits in Alzheimer’s disease. Credit: Elsa Suberbielle

Researchers from the Gladstone Institutes have shown for the first time that the protein BRCA1 is required for normal learning and memory and is depleted by Alzheimer’s disease. BRCA1 is a key protein involved in DNA repair, and mutations that impair its function increase the risk for breast and ovarian cancer. The new study shows Alzheimer’s disease is associated with a depletion of BRCA1 in neurons and that BRCA1 depletion can cause cognitive deficits.

“BRCA1 has so far been studied primarily in dividing (multiplying) cells and in cancer, which is characterized by a...