Skip to main content

The role of Cockayne Syndrome group B (CSB) in repeat expansion in Fragile X premutation mice

Tuesday, October 25, 2011 — Poster Session II

Noon – 2:00 p.m.

Natcher Conference Center




  • X Zhao
  • AR Lokanga
  • D Kumari
  • K Usdin


The Repeat Expansion Diseases are a group of >20 human genetic disorders arising from an expansion of a specific tandem repeat tract. One member of this group of diseases is Fragile X syndrome (FXS), the most common cause of inherited intellectual disability. FXS is caused by the inheritance of alleles with >200 CGG•CCG-repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1). These alleles arise by expansion from a premutation allele having 55-200 repeats. It has been suggested that Transcription Coupled Repair (TCR) is responsible for this process. To understand the relationship between TCR and expansion, we have crossed Fragile X premutation knock-in mice to mice with mutations in Cockayne syndrome group B (CSB), an important gene in the TCR pathway. Our data on the frequency of repeat expansion in the progeny of these crosses sheds light on the mechanism of repeat expansion.

back to top