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The role of CSB protein in Cockayne syndrome. Our major focus is to understand why defects in the human SWI/SNF chromatin remodeling protein known as CSB cause Cockayne syndrome (CS), a devastating childhood developmental disease characterized by neurological dysfunction, severe post-natal growth failure, and early death. The CSB protein is best understood as the central component of a DNA repair complex that performs transcription-coupled nucleotide excision repair (TC-NER), but despite continuing progress on the detailed biochemistry of TC-NER, a compelling connection between the DNA repair defect and CS disease has failed to emerge.
Our experimental evidence suggests instead that CS is not caused by a DNA repair defect (as generally assumed) but by a chromatin remodeling defect that deregulates the expression of many genes, somehow inducing a constitutive interferon-like response that resembles the early stages of Aicardi-Goutières syndrome (AGS). We are now collaborating with the Share and Care Network and the Luke O'Brien Foundation to determine whether CS newborns, infants, children, and young adults exhibit the same interferon-like response we observe in CS cell lines.
The role of CSB protein in Cockayne syndrome. Our major focus is to understand why defects in the human SWI/SNF chromatin remodeling protein known as CSB cause Cockayne syndrome (CS), a devastating childhood developmental disease characterized by neurological dysfunction, severe post-natal growth failure, and early death. The CSB protein is best understood as the central component of a DNA repair complex that performs transcription-coupled nucleotide excision repair (TC-NER), but despite continuing progress on the detailed biochemistry of TC-NER, a compelling connection between the DNA repair defect and CS disease has failed to emerge.
Our experimental evidence suggests instead that CS is not caused by a DNA repair defect (as generally assumed) but by a chromatin remodeling defect that deregulates the expression of many genes, somehow inducing a constitutive interferon-like response that resembles the early stages of Aicardi-Goutières syndrome (AGS). We are now collaborating with the Share and Care Network and the Luke O'Brien Foundation to determine whether CS newborns, infants, children, and young adults exhibit the same interferon-like response we observe in CS cell lines.
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