Easy to understand explanation of this recently published paper
Friedreich's Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA⋅TTC Triplet Repeat Instability.
Various sources:
http://www.physorg.com/news/2010-11-implicate-wayward-dna-repair-enzyme-friedreich.html
http://www.sciencecodex.com/scripps_research_team_implicates_wayward_dnarepair_enzyme_in_friedreichs_ataxia
Thursday, November 4, 2010
TRPing up the genome: tandem repeat polymorphisms as dynamic sources of genetic variability in health and disease.
Discov Med. 2010 Oct;10(53):314-21.
Hannan AJ.
Howard Florey Institute, Florey Neuroscience Institutes and Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria 3010, Australia
Keyword: Repetitive DNA sequences, tandem repeat polymorphisms (TRPs), genomic variability, post-mitotic instability, neuronal function and dysfunction, single nucleotide polymorphisms (SNPs), monogenic disorders, Huntington's disease, spinocerebellar ataxias, polyglutamine diseases, Friedreich ataxia, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, myotonic dystrophy. "missing heritability".
Hannan AJ.
Howard Florey Institute, Florey Neuroscience Institutes and Department of Anatomy and Cell Biology, University of Melbourne, Melbourne, Victoria 3010, Australia
Keyword: Repetitive DNA sequences, tandem repeat polymorphisms (TRPs), genomic variability, post-mitotic instability, neuronal function and dysfunction, single nucleotide polymorphisms (SNPs), monogenic disorders, Huntington's disease, spinocerebellar ataxias, polyglutamine diseases, Friedreich ataxia, fragile X syndrome, myoclonic epilepsy, polyalanine disorders, myotonic dystrophy. "missing heritability".
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