• Renner P, Roger T, Bochud PY et al (2011) A functional microsatellite of the macrophage migration inhibitory factor gene associated with meningococcal disease. (springer.com)
  • This study suggests that the 3'-end (AT)(n) repeat region of the CTLA-4 gene represents a recessive risk factor for type 1 diabetes. (lu.se)
  • Moreover, in reporter gene experiments, the transcription activation is highly dependent upon the number of repeats that are included in the construct. (plos.org)
  • Importantly, in vivo EWS-FLI1-bound microsatellites are significantly associated with EWS-FLI1-driven gene activation. (plos.org)
  • Although the first microsatellite was characterised in 1984 at the University of Leicester by Weller, Jeffreys and colleagues as a polymorphic GGAT repeat in the human myoglobin gene, the term "microsatellite" was introduced later, in 1989, by Litt and Luty. (wikipedia.org)
  • More specifically, the rate of Pol δ and Pol ɛ misalignment-based insertion/deletion errors within the microsatellites was ∼1000-fold higher than the rate of insertion/deletion errors within the HSV-tk gene. (nih.gov)
  • GT microsatellite repeats in the heme oxygenase-1 gene promoter associated with abdominal aortic aneurysm in Croatian patients. (cdc.gov)
  • The number of (GT)(n) repeats in the heme oxygenase-1 (HO-1) gene promoter modulates transcription of this enzyme, which might have anti-inflammatory, antioxidant, antiapoptotic, and antiproliferative effect. (cdc.gov)
  • The genetic cause of DM type 1 (DM1) is a CTG repeat expansion (CTG exp ) in the 3′ untranslated region of the DM protein kinase ( DMPK ) gene. (nature.com)
  • Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in several neurological disorders, being directly involved in the molecular mechanisms underlying pathogenesis through modulation of gene expression and/or the function of the RNA or protein it encodes. (frontiersin.org)
  • The fragile X mental retardation 1 (FMR1) gene contains a CGG repeat within its 5' untranslated region (5'UTR) that, when expanded to 55-200 CGG repeats (premutation allele), can result in the late-onset neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome. (semanticscholar.org)
  • A tetranucleotide repeat polymorphism in the fourth [corrected] intron of the aromatase P450 gene was longer among the lean (187 base pairs) than the rest of the women. (kb.se)
  • Women with opposite phylogenetic characteristic have a short microsatellite (168 base pairs) in this gene locus. (kb.se)
  • The mutation identified is a microsatellite repeat within intron 7 of the gene. (jax.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)
  • In order to provide additional chromosomal landmarks to discriminate the A m and A chromosomes, the microsatellite repeats (GAA) n , (CAG) n , (CAC) n , (AAC) n , (AGG) n and (ACT) n were tested as FISH probes. (elsevier.com)
  • The 2A m and 2A chromosomes were differentiated by the signals given by the (GAA) n , (CAG) n and (AAC) n repeats, while only (GAA) n discriminated the chromosomes 3A m and 3A. (elsevier.com)
  • As potential landmarks for identifying the A m chromosomes, SSR repeats will facilitate the introgression of T. monococcum chromatin into wheat. (elsevier.com)
  • Taken together with previously published studies, our results suggest that the amplification of microsatellite repeats is tightly associated with the differentiation and heterochromatinization of sex-specific chromosomes in sauropsids as well as in other taxa. (edu.au)
  • There was no statistically significant association between the presence of microsatellite instability or replication error positive phenotype and the patient's age, sex, tumour site, stage, node status, histological subtype or grade. (nih.gov)
  • We examined the presence of microsatellite instability (MSI) and loss of heterozigosity (LOH) in matched pair samples (tumoral and normal) of 24 patients with less aggressive types (smoldering and chronic) and in aggressive types (acute and lymphoma) of ATL. (nih.gov)
  • a2) Patient showing allelic shift in tumor sample indicating the presence of microsatellite instability (D10S191 marker-case 8). (nih.gov)
  • a3) Patient showing a novel allele in tumoral sample indicating the presence of microsatellite instability (marker D11S1391 - case 15). (nih.gov)
  • Low ONW1 mutation rate was inferred from population data, and attributed to reduced number of cell divisions during oogenesis, low repeat numbers, or short array length. (usda.gov)
  • One of these offspring did not receive the entire chromosomal segment or 'haplotype' (123‐C-G-T) associated with the parent introducing the mutation into the population due to a recombination event that shuffled the 126 allele at the microsatellite locus with the C-G-T subhaplotype. (els.net)
  • The two offspring from both matings receive the disease mutation, G. Note that all the diseased individuals share the basic core C-G-T haplotype, but in the first mating, the repeat allele 126 is coinherited with this haplotype, whereas the repeat allele 123 is coinherited with this haplotype in the second mating. (els.net)
  • Microsatellite instability (MSI) is the condition of genetic hypermutability (predisposition to mutation) that results from impaired DNA mismatch repair (MMR). (wikipedia.org)
  • These results indicate that microsatellite alterations may participate in the development of the less aggressive types of ATL. (nih.gov)
  • Dinucleotide repeats are associated with human diseases such as Norrie's disease , and the expansion of trinucleotide repeats is often associated with neurodegenerative disease and chromosomal fragility , such as Huntington's disease and fragile X syndrome , respectively . (bioinformatics.org)
  • I know 25 of my DYS microsatellite repeat allele values. (fark.com)
  • This repeat contains nine adenines in NOD/ShiLtJ, A/HeJ, A/WySnJ, and SKH2/J and 10 adenines in A/J, and NZB/B1NJ, and likely enhances the hearing loss associated with the Cdh23 ahl allele (Johnson et al . (jax.org)
  • Although the most common microsatellite error was the deletion of a single repeat unit, ∼ 20% of errors were deletions of two or more units for both polymerases. (nih.gov)
  • This work was supported by National Institutes of Health grants AR049610 and HL130669 to R.B. We are grateful to the staff of the W. M. Keck Foundation DNA Sequencing Facility at Yale School of Medicine for their assistance in developing the microsatellite fragment analysis and TaqMan assay protocols. (springer.com)