PRJNA451078
Cockayne syndrome and rRNA variation
Cockayne syndrome (CS) is a progeria characterized by childhood onset of degenerative symptoms reminiscent of the aging body, such as loss of subcutaneous fat, alopecia, cataracts, neurological degeneration and cachexia. CS can be caused by the recessive mutation of 5 genes (CSA, CSB, XPB, XPD, XPG) that are all involved in a branch of Nucleotide-Excision Repair (NER), thus explaining the elevated UV-sensitivity of the patients. However, total loss of NER is not always followed by premature aging, suggesting that alternative functions of the CS proteins have a crucial role in the disease. This study showed that a disturbed RNA polymerase I transcription in CSA and CSB-deficient cells is followed by a decreased translational accuracy of the ribosomes. rRNA sequencing was performed to determine whether rRNA variations play a role in translational accuracy in CS cells.