Gene expression profile of fibroblasts derived from CS patient

As the causative gene for cockayne syndrome, CSB has a well-characerized function in transcription-coupled nucleotide excision repair. However, the complex neurological abnormalities that affect CS patients can not be simply explained by the DNA repair defects. CSB is also involved in RNAP II transcription regulation. This study characterizes the gene expression signatures affected by CSB protein. Using Nimblegen microarray we identified differentially expressed genes in human fibroblasts derived from CS patients as compared to CSB reconstituted cell lines (wild type). The Nimblegen human 12 x 135K gene expression array was used to define gene expression profiles in human fibroblasts either lacking CSB or expressing exogenous CSB. Two independent CSB-deficient cell lines and two independent CSB wild type cell lines were tested in this study.