Single Strand Breaks in DNA and SCAN1
I mentioned that there are diseases connected with genomic repair that have names attached to them in a comment I made at Telic Thoughts. An example is a condition known as spinocerebellar ataxia with axonal neuropathy-1 or SCAN1 for short. SCAN1 is a disease affecting the brain and spinal cord. As this report indicates the cause of the disease are mutations in the protein TDP1 (tyrosyl phosphodiesterase 1). TDP1 was known to have a function related to the repair of double strand DNA breaks during cell replication when another function involving single strand break repairs was found. It is this latter function that is believed to be impaired by SCAN1.
Information found in this linked paper in 'Nature' shows that "in human cells TDP1 is required for repair of chromosomal single-strand breaks arising independently of DNA replication from abortive top1 activity or oxidative stress." TDP1 is found to be active in single strand break repair multi-protein complexes.
Labels: DNA Repair