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	NIDDK	GEN/GENOM-23

Authors

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

Abstract

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.

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