Article
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.
The Journal of biological chemistry - 25 Mar 2011
Figiel Małgorzata, Chon Hyongi, Cerritelli Susana M, Cybulska Magdalena, Crouch Robert J, Nowotny Marcin
Abstract excerpt
RNase H2 cleaves RNA sequences that are part of RNA/DNA hybrids or that are incorporated into DNA, thus, preventing genomic instability and the accumulation of aberrant nucleic acid, which in humans induces Aicardi-Goutières syndrome, a severe autoimmune disorder. The 3.1 Å crystal structure of human RNase H2 presented here allowed us to map the positions of all 29 mutations found in Aicardi-Goutières syndrome...
Topics
- Animals
- Autoimmune Diseases of the Nervous System
- Bacterial Proteins
- Humans
- Magnesium
- Mice
- Models, Molecular
- Mutation
- Nervous System Malformations
- Nucleic Acid Heteroduplexes
- Protein Structure, Quaternary
- Ribonuclease H