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Trinucleotide repeats: triggers for genomic disorders?

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.

SUBMITTER: Kozlowski P

PROVIDER: S-EPMC2873807 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Trinucleotide repeats: triggers for genomic disorders?

Kozlowski Piotr P Sobczak Krzysztof K Krzyzosiak Wlodzimierz J WJ

Genome medicine 20100430 4

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 ...[more]

PMID: 20441603

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