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  • intronic
  • However, stable intronic sequence RNAs (sisRNAs) have been described from oocytes of the frog Xenopus, from Drosophila embryos, and from human cell lines. (wn.com)
  • proteins
  • 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)
  • When proteins are generated from intron-containing genes, RNA splicing takes place as part of the RNA processing pathway that follows transcription and precedes translation . (wn.com)
  • DM arises from the expansion of two similar non-coding microsatellites in the DMPK and CNBP genes which have been proposed to cause disease through a common mechanism, a toxic RNA gain-of-function which can either inhibit or activate specific proteins. (ufl.edu)
  • One of these candidates, the muscleblind-like (MBNL) family of proteins encoded by three genes, MBNL1, MBNL2, and MBNL3, are sequestered into discrete nuclear foci by RNA repeat expansions, preventing interactions with endogenous RNA targets and compromising their activity. (ufl.edu)
  • humans
  • citation needed] At present there are 14 documented trinucleotide repeat disorders that affect humans. (wikipedia.org)
  • 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)
  • With a primary focus on humans, it is the aim of this review to present an up to date discussion, both of the biological aspects and scientific uses of microsatellite sequences. (bmj.com)
  • 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)
  • specific genes
  • Category I includes Huntington's disease (HD) and the spinocerebellar ataxias that are caused by a CAG repeat expansion in protein-coding portions of specific genes. (wikipedia.org)
  • This and additional evidence supports the hypothesis that loss of MBNL1 function in DM causes defects in the alternative splicing of specific genes during postnatal development which leads to distinct pathological features in adult-onset disease, including myotonia and insulin insensitivity. (ufl.edu)
  • 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)
  • disorders
  • 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)
  • Some of these strategies have the potential for future use in gene therapy for trinucleotide repeat disorders. (lidsen.com)
  • 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)
  • 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)
  • relatively
  • Given their high abundance, and their capacity to expand in relatively short periods of time through replication slippage, they can greatly contribute to increase protein sequence space and generate novel protein functions. (biomedsearch.com)
  • Our recent sequence specific breathing DNA dynamics observations suggest that transient DNA bubbles form not only in A/T-reach sequences but also in sequences with relatively high G/C-content caused by the softness of the base pair stacking -. (cancer-basics.com)
  • chromosomes
  • These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
  • The telomeres at the ends of the chromosomes, thought to be involved in ageing/senescence, consist of repetitive DNA, with the hexanucleotide repeat motif TTAGGG in vertebrates. (wikipedia.org)
  • myoglobin
  • Molecular characterization, phylogenetic analysis and expression profiling of myoglobin and cytoglobin genes in response to heat stress in channel catfish Ictalurus punctatus. (auburn.edu)
  • phenotype
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • transcription
  • We record that repeats possess the to hinder the binding of transcription elements with their consensus series by changed DNA inhaling and exhaling dynamics in closeness from the binding sites. (cancer-basics.com)
  • This combination functions as a transcription complex to turn on androgen gene expression. (wikipedia.org)
  • base pairs
  • Between the strand-biased microsatellite repeats and G:C mononucleotide repeats, all sequence variations retained one or two base pairs with A (purine) interrupting the pyrimidine-rich strand and T (pyrimidine) interrupting the purine-rich strand. (wikipedia.org)
  • Using the concept of "intermediate bubble NSC 74859 says" and our recently established criterion for DNA base pair "thickness" through the base pairs common displacement (BAD) characteristic we compare the breathing dynamics of TRS against random sequences with identical nucleotide composition as well as repeats with different lengths and G/C content. (cancer-basics.com)
  • AT in ATATATATAT) is repeated at least three times, (3) there are only few base pairs that do not match the periodic motif (see Methods). (biomedcentral.com)
  • disease
  • Complement regulatory protein genes in channel catfish and their involvement in disease defense response. (auburn.edu)
  • They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (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)
  • Our working hypothesis is that MBNL genes show distinct temporal and spatial expression patterns that influence age-of-onset and disease-associated pathological changes. (ufl.edu)
  • Additionally, we show that MBNL1 interacts with DM1 pathogenic and non-pathogenic repeat RNAs, but inherent differences in these interactions contribute to the ability to promote disease associated changes in alternative splicing. (ufl.edu)
  • In particular, we test whether they share the hypermutability of the longer tandem repeats and whether disease-related genes have a higher STR content than non-disease-related genes. (biomedcentral.com)
  • Here we focus on a class of very short tandem repeats and their contribution to disease risk. (biomedcentral.com)
  • 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)
  • Molecular
  • Molecular clock DNA sequences from head and body lice suggests a divergence date of around 100,000 years ago which suggests that use of clothing may have started around this time. (brainscape.com)
  • short
  • For example, minisatellite DNA is a short region (1-5kb) of 20-50 repeats. (wikipedia.org)
  • 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)
  • 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)
  • The term intron refers to both the DNA sequence within a gene and the corresponding sequence in RNA transcripts . (wn.com)
  • The word intron is derived from the term intragenic region , i.e. a region inside a gene. (wn.com)
  • amino acid
  • We have found that the gain of novel LCRs is frequently associated with repeat expansion whereas the loss of LCRs is more often due to accumulation of amino acid substitutions as opposed to deletions. (biomedsearch.com)
  • Overexpression
  • 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)