MOTIVATION Simple sequence repeats (SSRs) or microsatellite repeats are found abundantly in many prokaryotic and eukaryotic genomes. Among SSRs, triplet repeats are of special significance because some of them have been linked to various genetic disorders. The objective of the study is to analyze the triplet repeats of complete human genome and to identify the genes that contain the triplet rep...

Expansions of triplet repeats are responsible for more than 15 hereditary neurological disorders in humans. Triplet repeats are fairly stable when the number of elementary units is under approx 30, but become polymorphic in length with a clear bias for expansions when this threshold is exceeded. This results in the rapid addition of hundreds or even thousands of extra repeats and, ultimately, d...

Purpose Studies of Fuchs' dystrophy have largely focused on individuals of European origin. Characterization of disease among African Americans is required to ensure prognostic factors and therapeutic approaches are applicable across diverse patient populations. Methods We assessed all self-reported black and white patients aged older than 40 years at a tertiary care institution with a diagno...

Triplet-repeat expansions cause several inherited human diseases. Expanded triplet-repeats are unstable in somatic cells, and tissue-specific somatic instability contributes to disease pathogenesis. In mammalian cells instability of triplet-repeats is dependent on the location of the origin of replication relative to the repeat tract, supporting the 'fork-shift' model of repeat instability. Dis...

Although triplet repeat DNA sequences are scattered throughout the human genome, their biological function remains obscure. To aid in correlating potential structures of these nucleic acids with their function, we propose their classification based on the presence or absence of a palindromic dinucleotide within the triplet, the G + C content, and the presence or absence of a homopolymer. Five c...

Triplet repeat expansions underlie several human genetic diseases such as Huntington's disease and Friedreich's ataxia. Although such mutations are primarily known from humans, a triplet expansion associated genetic defect has also been reported at the IIL1 locus in the Bur-0 accession of the model plant Arabidopsis thaliana. The IIL1 triplet expansion is an example of cryptic genetic variation...

INTRODUCTION Friedreich's ataxia (FRDA) is the most common autosomal recessive inherited ataxia. It is characterized by onset before the age of 25 year, progressive limb and truncal ataxia, lower limb areflexia, extensor plantars, dysarthria and impaired posterior column sensations. Other important associated features are skeletal deformity, hypertrophic cardiomyopathy and diabetes mellitus. Mo...