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Mentions: Over the past two decades our thinking about the links between STRs and human diseases has been dominated by neurological disorders known as trinucleotide repeat expansion diseases (TREDs) [8,9]. There are over 20 diseases that belong to this group, the best known of which are fragile X syndrome (FXS), myotonic dystrophy type 1 (DM1), Huntington's disease (HD) and spinocerebellar ataxias (SCAs). FXS is caused by an expanded CGG repeat located in the 5' untranslated region (UTR) of the fragile X mental retardation 1 gene (FMR1); DM1 is triggered by an expanded CUG repeat located in the 3' UTR of the dystrophia myotonica protein kinase gene (DMPK); and HD is caused by an abnormally elongated CAG repeat located in the open reading frame of the Huntingtin gene (HTT), which is translated to form a polyglutamine tract in the protein (Figure 1a-c). The repeat type and localization determines the mechanism of pathogenesis, which can be impaired transcription (FXS, Figure 1a), transcript toxicity (DM1, Figure 1b) or protein toxicity (HD and SCAs; Figure 1c) [10,11].
Trinucleotide repeats: triggers for genomic disorders?
Bottom Line: Recently, long TGG repeat tracts were shown to be implicated in a genomic disorder resulting from chromosome 14q32.2 deletion.Various different mechanisms might trigger this deletion, and looking at the problem from a structural biology perspective may help.Deeper insight into repeated sequences and their features may shed light on the mechanisms involved in this microdeletion and similar genomic rearrangements.
Affiliation: Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland. firstname.lastname@example.org.
Abstract: Among the various sequence repeats that shape the human genome, trinucleotide repeats have attracted special interest as a result of their involvement in a class of human genetic disorders known as triplet repeat expansion diseases. Recently, long TGG repeat tracts were shown to be implicated in a genomic disorder resulting from chromosome 14q32.2 deletion. Various different mechanisms might trigger this deletion, and looking at the problem from a structural biology perspective may help. Deeper insight into repeated sequences and their features may shed light on the mechanisms involved in this microdeletion and similar genomic rearrangements.
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