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  • loci
  • Thus, the mutation rate at microsatellite loci is expected to differ from other mutation rates, such as base substitution rates. (wikipedia.org)
  • Through statistical analysis and enhanced tag cloud representation on defined functional related genes and cross-species clusters, the proposed system can correctly represent the patterns, loci, colors, and sizes of identified SSRs in accordance with gene functions, pattern qualities, and conserved characteristics among species. (hindawi.com)
  • genomic
  • These observations might impact ongoing tries to make use of LMD and MCMC simulations for TRS-related modeling of genomic DNA efficiency in elucidating the common denominators of the dynamic TRS expansion mutation with potential therapeutic applications. (cancer-basics.com)
  • It is likely that the local base pair dynamics may display some sequence and number of repeats specificity that could underline the propensity for growth and possibly alteration in genomic DNA functions. (cancer-basics.com)
  • muscleblind
  • 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)
  • 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)
  • specific genes
  • 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)
  • SSRs
  • Microsatellites are often referred to as short tandem repeats (STRs) by forensic geneticists, or as simple sequence repeats (SSRs) by plant geneticists. (wikipedia.org)
  • Simple sequence repeats (SSRs) are not only applied as genetic markers in evolutionary studies but they also play an important role in gene regulatory activities. (hindawi.com)
  • Efficient identification of conserved and exclusive SSRs through cross-species comparison is helpful for understanding the evolutionary mechanisms and associations between specific gene groups and SSR motifs. (hindawi.com)
  • Ultraconserved or exclusive SSRs among cross-species orthologous genes could be effectively retrieved and displayed through a friendly interface design. (hindawi.com)
  • Simple sequence repeats (SSRs) are nonrandom distributed nucleotides in genomes of different organisms with repeated basic patterns of lengths from mononucleotide to hexanucleotide [ 1 ]. (hindawi.com)
  • SSRs have been demonstrated as important motifs involved within various biological events including evolutionary processes, gene expression, genetic disease, chromatin organization, and DNA metabolic processes [ 2 - 4 ]. (hindawi.com)
  • Therefore, identifying highly conserved SSRs through cross-species comparison may provide an alternative approach to recognize significant biomarkers or discover putative gene regulatory SSR motifs from enormous gene candidates under the assumption of natural long-term evolutionary processes. (hindawi.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)
  • instability
  • Here we report an enhanced fly model with substantial instability based on a noncoding 270 CAG ( UAS-CAG 270 ) repeat construct under control of a germline-specific promoter. (genetics.org)
  • These studies indicate that different aspects of repeat instability are under independent genetic control, and identify CG15262, a protein with a NOT2/3/5 conserved domain, as a modifier of CAG repeat instability in vivo . (genetics.org)
  • However, longer repeats including ones in the high normal range show instability, with disease occurring when the repeats expand beyond select thresholds. (genetics.org)
  • Since longer repeats generally also cause more severe disease, repeat instability with expansion bias is among the most devastating aspects facing the patients and their families. (genetics.org)
  • Repeat instability has been modeled in various organisms including bacteria, yeast, transgenic mice, and mammalian cell lines ( K ovtun and M c M urray 2008 ). (genetics.org)
  • We developed a Drosophila model of repeat instability by targeting the expression of a 78-CAG repeat-containing SCA3 transgene (SCA3trQ78) to germ cells. (genetics.org)
  • consist
  • 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)
  • foci
  • 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)
  • proteins
  • 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)
  • We first identified the sets of proteins that contain repeats of any one of the 20 amino acids, as well as control sets of proteins chosen at random in the proteome. (frontiersin.org)
  • Homopolymeric amino acid repeats (AARs) are found in a large number of eukaryotic proteins ( Faux, 2012 ). (frontiersin.org)
  • Several studies have now explored the functional consequences of the appearance and variation in length of AARs in transcription factors and in other proteins in which they are particularly enriched, showing how these repeats can alter the function of proteins, thus ultimately modulating developmental and post-developmental processes (e.g. (frontiersin.org)
  • Thus
  • Thus, the phenotype of traits linked to genes found in either chloroplasts or mitochondria are determined exclusively by the maternal parent. (wikipedia.org)
  • toxicity
  • citation needed] Recent results suggest that the CAG repeats need not always be translated in order to cause toxicity. (wikipedia.org)
  • sequence
  • Gene conversion arises during DNA repair via DNA recombination, by which a piece of DNA sequence information is transferred from one DNA helix (which remains unchanged) to another DNA helix, whose sequence is altered. (wikipedia.org)
  • For example, the sequence TATATATATA is a dinucleotide microsatellite, and GTCGTCGTCGTCGTC is a trinucleotide microsatellite (with A being Adenine, G Guanine, C Cytosine, and T Thymine). (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)
  • Transcription factor 4 ( TCF4 ), that encodes for E2-2 protein, a group of E protein transcription factors known for cellular growth and differentiation, is one such gene that has been associated with this disease. (arvojournals.org)
  • neurologic
  • Inverse correlation of age at neurologic onset and HD CAG repeat length. (beds.ac.uk)
  • For each individual, the measured CAG repeat length in blood DNA ( x -axis) is plotted against age at neurologic onset ( y -axis). (beds.ac.uk)
  • include
  • Prominent early applications include the identifications by microsatellite genotyping of the 8-year-old skeletal remains of a British murder victim (Hagelberg et al. (wikipedia.org)
  • regulation
  • Nevertheless, several interesting hypotheses exist suggesting that certain microsatellites may exert subtle influences on the regulation of gene expression. (bmj.com)
  • In addition to the QTL studies mentioned previously, other authors focused on the analysis of individual genes and their possible impact on the regulation of skatole levels in the pig. (biomedcentral.com)
  • From previous reports, evidences show that SSR regulation relies on pattern of repeat unit, repeat length, and genetic location in the target genes [ 2 ]. (hindawi.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)
  • encode
  • 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)
  • functional
  • A growing body of evidence is changing these views by showing how at least some of these repeats have defined structural propensities and functional properties. (frontiersin.org)
  • regions
  • The IGF1 gene contains "AC" repeats located within the upstream regions and is a major determinant of small body size in dogs [ 7 - 9 ]. (hindawi.com)
  • differences
  • 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)
  • pathogenic
  • Since that time, extensive investigations into the pathogenic mechanism have utilized the knowledge of the disease gene and its defect but, with notable exceptions, have rarely relied for guidance on the genetic findings in human patients to interpret the relevance of findings in non-human model systems. (beds.ac.uk)
  • disease
  • 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)
  • 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)
  • Thirty-four percent of FECD subjects and 5% of control individuals harbor more than 50 trinucleotide repeats, which was considered as the disease threshold. (arvojournals.org)
  • 4 , 5 So far, many genes have been attributed to cause this disease, thereby revealing its genetic complexity. (arvojournals.org)
  • As with the human disease, an ∼3:1 bias for repeat expansions over contractions is observed. (genetics.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)
  • MBNL1
  • The human homolog of mbl, MBNL1, which was originally identified as binding CUG repeats in RNA, has since been shown to bind CAG (and CCG) repeats as well. (wikipedia.org)
  • Overall, these results demonstrate that MBNL1 is an alternative splicing factor that regulates gene expression during postnatal life while MBNL3 expression is essential for normal myogenic differentiation in vitro and possibly in vivo. (ufl.edu)
  • slipped stra
  • During lagging-strand synthesis, unusual structures such as slipped strands may form, which may result in expansions or contractions in the next replication round. (genetics.org)