Linked Life Data

15233994

Source:http://linkedlifedata.com/resource/pubmed/id/15233994

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-7-5
pubmed:abstractText
Friedreich ataxia (FRDA) is primarily caused by an unstable GAA repeat-expansion mutation within intron 1 of the FRDA gene. However, the exact mechanisms leading to this expansion and its consequences are not fully understood. To study the dynamics of this mutation, we have generated two lines of human FRDA YAC transgenic mice that contain GAA repeat expansions within the appropriate genomic context. We have detected intergenerational instability and age-related somatic instability in both lines, with pronounced expansions found in the cerebellum. The dynamic nature of our transgenic GAA repeats is comparable with previous FRDA patient somatic tissue data. However, there is a difference between our FRDA YAC transgenic mice and other trinucleotide-repeat mouse models, which do not show pronounced repeat instability in the cerebellum. This represents the first mouse model of FRDA GAA repeat instability that will help to dissect the mechanism of this repeat.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0888-7543
pubmed:author
pubmed:issnType
Print
pubmed:volume
84
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
301-10
pubmed:dateRevised
2010-1-22
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
GAA repeat instability in Friedreich ataxia YAC transgenic mice.
pubmed:affiliation
Department of Medical Genetics, Division of Medicine, Imperial College London, North West Thames Regional Genetics Service, Northwick Park Hospital, Watford Road, Harrow, HA1 3UJ, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't