Immunofluorescence studies to dissect the impact of Cockayne syndrome A alterations on the protein interaction and cellular localization.

ABSTRACT:

Background

Cockayne syndrome (CS), which was discovered by Alfred Cockayne nearly 75 years ago, is a rare autosomal recessive disorder characterized by growth failure, neurological dysfunction, premature aging, and other clinical features including microcephaly, ophthalmologic abnormalities, dental caries, and cutaneous photosensitivity. These alterations are caused by mutations in the CSA or CSB genes, both of which are involved in transcription-coupled nucleotide excision repair (TC-NER), the sub-pathway of NER that rapidly removes UV-induced DNA lesions which block the progression of the transcription machinery in the transcribed strand of active genes. Several studies assumed that CSA and CSB genes can play additional roles outside TC-NER, due to the wide variations in type and

SUBMITTER: Ghit A 

PROVIDER: S-EPMC8208330 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature