Trinucleotide repeats: triggers for genomic disorders?
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* Corresponding author: Wlodzimierz J Krzyzosiak wlodkrzy@ibch.poznan.pl
- † Equal contributors
Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland
Genome Medicine 2010, 2:29 doi:10.1186/gm150
Published: 30 April 2010Abstract
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.