The AAGGG Repeat Expansion in the RFC1 gene: Investigating the functional consequences
Lead Research Organisation:
University College London
Department Name: Institute of Neurology
Abstract
Nucleotide repeat expansions are frequent causes of neurodegeneration but little is known about the mechanisms leading to neuronal degeneration. We recently identified a biallelic intronic AAGGG nucleotide repeat expansion in the replication-factor-C subunit-1 (RFC1) as a common cause of ataxia (Cortese-et-al, Nature Genetics, April2019). RFC1 is known to play a key role in DNA damage recognition and recruitment of DNA repair enzymes and AAGGG expansion is not loss-of-function. The objective of the project is to investigate the 100,000 genomes resource for novel neurodegeneration associated expansions and in cell culture models, characterise neurodegeneration caused by RFC1 AAGGG and newly identified expansions.
Organisations
Publications
CurrĂ² R
(2021)
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
in Brain : a journal of neurology
Dominik N
(2021)
CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions.
in Journal of neurology
Meindl T
(2020)
[CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia].
in Der Nervenarzt