• Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
  • Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
  • Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
  • Short tandem repeats (STRs) are widely present in the human genome. (researchsquare.com)
  • Studies have confirmed that STRs are associated with more than 30 diseases, and they have also been used in forensic identification and paternity testing. (researchsquare.com)
  • Short tandem repeats (STRs), also known as microsatellites, are repetitive DNA sequences consisting of 1-6-bp motifs present in a genome. (researchsquare.com)
  • Studies have shown that STRs represent a source of phenotypic variations in more than 30 Mendelian diseases, such as neurological disorders (5)(6) . (researchsquare.com)
  • Many repetitive DNA sequences have been linked to human diseases such as Huntington's disease and Friedreich's ataxia. (wikipedia.org)
  • Repeated sequences (also known as repetitive elements, repeating units or repeats) are short or long patterns of nucleic acids (DNA or RNA) that occur in multiple copies throughout the genome. (wikipedia.org)
  • Some of these repeated sequences are necessary for maintaining important genome structures such as telomeres or centromeres. (wikipedia.org)
  • The disposition of repetitive elements throughout the genome can consist either in directly adjacent arrays called tandem repeats or in repeats dispersed throughout the genome called interspersed repeats. (wikipedia.org)
  • While some repeated DNA sequences are important for cellular functioning and genome maintenance, other repetitive sequences can be harmful. (wikipedia.org)
  • However, an abundance of neutral repeats can still influence genome evolution as they accumulate over time. (wikipedia.org)
  • Overall, repeated sequences are an important area of focus because they can provide insight into human diseases and genome evolution. (wikipedia.org)
  • Tandem repeats are repeated sequences which are directly adjacent to each other in the genome. (wikipedia.org)
  • Tandem repeats have a wide variety of biological functions in the genome. (wikipedia.org)
  • In addition to playing an important role in recombination, tandem repeats also play important structural roles in the genome. (wikipedia.org)
  • Improving our understanding of these mutations would increase our knowledge of the mutational dynamics of the genome and may uncover additional loci that contribute to disease. (biomedcentral.com)
  • These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (researchsquare.com)
  • In the 1990s, more research was conducted to elucidate the evolutionary dynamics of minisatellite and microsatellite repeats because of their importance in DNA-based forensics and molecular ecology. (wikipedia.org)
  • For minisatellites and microsatellites, the number of times the sequence repeats at a single locus can range from twice to hundreds of times. (wikipedia.org)
  • When the repeating sequence is only 2-10 nucleotides long, the repeat is referred to as a short tandem repeat (STR) or microsatellite. (wikipedia.org)
  • The number of repeat units differs between individuals, resulting in highly complex allele polymorphisms. (researchsquare.com)
  • DNA-dispersed repeats were increasingly recognized as a potential source of genetic variation and regulation. (wikipedia.org)
  • Therefore, STR detection has been widely used in forensic identification, paternity testing, species polymorphism identification, and genetic disease diagnosis (1)(2)(3)(4) . (researchsquare.com)
  • These repeats fold into highly organized G quadruplex structures which protect the ends of chromosomal DNA from degradation. (wikipedia.org)
  • To address the molecular and cellular events that lead to these pathological outcomes, we recently generated a mouse Dmpk CTG expansion knock-in model and identified choroid plexus epithelial cells as particularly affected by the expression of toxic CUG expansion RNAs. (bvsalud.org)
  • When the repeating sequence is 10-60 nucleotides long, the repeat is referred to as a minisatellite. (wikipedia.org)
  • NanoSTR can be used for STR detection and genotyping based on long-read data from nanopore sequencing with improved accuracy and efficiency compared with other existing methods, such as Tandem-Genotypes and TRiCoLOR. (researchsquare.com)
  • Repeated sequences are categorized into different classes depending on features such as structure, length, location, origin, and mode of multiplication. (wikipedia.org)
  • Tandem repeats and interspersed repeats are further categorized into subclasses based on the length of the repeated sequence and/or the mode of multiplication. (wikipedia.org)
  • Whole transcriptome analysis of myotonic dystrophy type 1 choroid plexus revealed disease-associated RNA expression and mis-splicing events. (bvsalud.org)
  • McClintock's work set the stage for the discovery of repeated sequences because transposition, centromere structure, and telomere structure are all possible through repetitive elements, yet this was not fully understood at the time. (wikipedia.org)
  • Many repeat sequences are likely to be non-functional, decaying remnants of Transposable elements, these have been labelled "junk" or "selfish" DNA. (wikipedia.org)
  • A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromosome 12 was recently identified as the pathogenic mutation for this disease. (nih.gov)
  • Repeated sequences (also known as repetitive elements, repeating units or repeats) are short or long patterns of nucleic acids (DNA or RNA) that occur in multiple copies throughout the genome. (wikipedia.org)
  • When the repeating sequence is only 2-10 nucleotides long, the repeat is referred to as a short tandem repeat (STR) or microsatellite. (wikipedia.org)
  • Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. (nih.gov)
  • Tandem repeats have a wide variety of biological functions in the genome. (wikipedia.org)
  • For minisatellites and microsatellites, the number of times the sequence repeats at a single locus can range from twice to hundreds of times. (wikipedia.org)
  • Overall, repeated sequences are an important area of focus because they can provide insight into human diseases and genome evolution. (wikipedia.org)
  • Discoveries of deleterious repetitive DNA-related diseases stimulated further interest in this area of study. (wikipedia.org)
  • The surprising finding of the same mutation in two completely different haplotypes in a sparsely populated area in Finland may suggest gene conversion. (nih.gov)
  • Repeated sequences are categorized into different classes depending on features such as structure, length, location, origin, and mode of multiplication. (wikipedia.org)