• SSRs
  • A recent handful of studies have shown, however, that SSRs in different positions of a gene can play important roles in determining protein function, genetic development, and regulation of gene expression. (biomedcentral.com)
  • Especially notable is the much higher density of SSRs in 5'UTRs compared to the other regions and a strong affinity towards trinucleotide repeats in these regions for both rice and Arabidopsis . (biomedcentral.com)
  • However, recent research has shown that SSRs have many important functions in terms of development, gene regulation, and evolution. (biomedcentral.com)
  • Most recently, Fondon and Garner [ 3 ] have shown that the fast morphological evolution in domesticated dogs is due to the contraction/expansion of SSRs in the coding regions of the Alx-4 and Runx-2 genes. (biomedcentral.com)
  • 12 ] did a more comprehensive survey of SSRs in Arabidopsis and showed that SSRs in general were more favored in upstream regions of genes and that trinucleotide repeats were the most common repeats found in the coding regions. (biomedcentral.com)
  • STRs
  • We also demonstrate that STRs are significantly overrepresented in disease-related genes in both human and mouse. (biomedcentral.com)
  • These results are preserved when we limit the analysis to STRs outside known longer tandem repeats. (biomedcentral.com)
  • It appeared that 92.23% of all known human genes have STRs in their exons and 99% of STR regions are shorter than 33 bp. (biomedcentral.com)
  • genetic
  • Although the transfer of a number of genes from these organelles to the nucleus prevents them from living independently, each still possesses genetic material in the form of double stranded DNA. (wikipedia.org)
  • citation needed] Trinucleotide repeat disorders generally show genetic anticipation, where their severity increases with each successive generation that inherits them. (wikipedia.org)
  • The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)
  • Overall, our study provides a comprehensive information on cell wall related genes families in sorghum which offers a valuable resource to develop strategies for altering biomass composition by plant breeding and genetic engineering approaches. (frontiersin.org)
  • 4 , 5 So far, many genes have been attributed to cause this disease, thereby revealing its genetic complexity. (arvojournals.org)
  • however, they are extremely useful in such fields as forensic DNA profiling and genetic linkage analysis, which can be used to search for genes involved in a wide range of disorders. (bmj.com)
  • However, when used to refer to the number of repeating units of genetic information that are sufficient to encode the blueprint for something as complex as a human being, it never ceases to amaze me that this number is big enough! (bmj.com)
  • intron
  • If the repeat is present in an intron it can cause toxic effects by forming spherical clusters called RNA foci in cell nuclei. (wikipedia.org)
  • mediate
  • The mechanism by which trinucleotide secondary structures mediate expansions is not well understood. (embopress.org)
  • Thus the AR activates these genes to mediate the effects of androgens in the human body, including the development and maintenance of the male sexual phenotype and generalized anabolic effects. (wikipedia.org)
  • citation needed
  • Some types of satellite DNA in humans are: A repeated pattern can be between 1 base pair long (a mononucleotide repeat) to several thousand base pairs long[citation needed], and the total size of a satellite DNA block can be several megabases without interruption. (wikipedia.org)
  • citation needed] Currently, nine neurologic disorders are known to be caused by an increased number of CAG repeats, typically in coding regions of otherwise unrelated proteins. (wikipedia.org)
  • citation needed] Recent results suggest that the CAG repeats need not always be translated in order to cause toxicity. (wikipedia.org)
  • citation needed] At present there are 14 documented trinucleotide repeat disorders that affect humans. (wikipedia.org)
  • disorders
  • Some of these strategies have the potential for future use in gene therapy for trinucleotide repeat disorders. (lidsen.com)
  • These disorders are characterized by autosomal-dominant mode of inheritance (with the exception of spino-bulbar muscular atrophy, which shows X-linked inheritance), midlife onset, a progressive course, and a correlation of the number of CAG repeats with the severity of disease and the age at onset. (wikipedia.org)
  • TRS disorders typically have large and variable repeat expansions that result in multiple tissue dysfunction or degeneration. (cancer-basics.com)
  • Given the common etiology underlying these varied disorders, for some time it had been a mystery to scientists how glutamine expansion tracts could prove toxic. (scienceoveracuppa.com)
  • Such inclusions are associated with toxicity in some of the trinucleotide repeat disorders. (scienceoveracuppa.com)
  • All of these disorders have reported somatic mosaicism within the mutated genes, such that different extremes of expansion are seen in different organ systems. (scienceoveracuppa.com)
  • codons
  • Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original. (wikipedia.org)
  • phenotype
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • repetitive
  • The residual fifth is moderately to highly repetitive, and can be divided into two types, depending on whether the individual repeat units are dispersed singularly (interspersed repetitive DNA) or clustered together (satellite DNA). (bmj.com)
  • There are several families of interspersed repetitive DNA, although the two largest are known as short and long interspersed nuclear elements (SINEs and LINEs, respectively), 1 and it is to the SINE family that the frequently mentioned Alu repeat belongs. (bmj.com)
  • humans
  • Nevertheless, even focusing as intended upon microsatellites and their relevance to humans, it should become clear that most of these questions remain ones that will require consideration, even if only in passing. (bmj.com)
  • Protein
  • Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. (wikipedia.org)
  • There are an estimated 19,000-20,000 human protein-coding genes. (wikipedia.org)
  • Researchers at the University of Pennsylvania demonstrated that in fruit flies, a protein previously known to bind CUG repeats (muscleblind, or mbl) is also capable of binding CAG repeats. (wikipedia.org)
  • The group of 112 unique genes features 73 protein-coding genes, 30 tRNA genes, four rRNA genes and five conserved chloroplast open reading frames (ORFs). (peerj.com)
  • The human androgen receptor (AR) is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus Xq11-Xq12). (wikipedia.org)
  • PolyQ
  • Furthermore, when the CAG repeat was changed to a repeating series of CAACAG (which also translates to polyQ), toxicity was dramatically reduced. (wikipedia.org)
  • significantly
  • Overexpression of Mre11p or Rad50p suppresses the inhibition of DSB repair by CAG 98 and significantly increases the average size of expansions found at the recipient locus. (embopress.org)