• mutations
  • this allows them to accumulate mutations unhindered over the generations and gives rise to variability that can be used for DNA fingerprinting and identification purposes. (wikipedia.org)
  • Unlike point mutations, which affect only a single nucleotide, microsatellite mutations lead to the gain or loss of an entire repeat unit, and sometimes two or more repeats simultaneously. (wikipedia.org)
  • In addition to illustrate the effects of mutations and expansions of SSR repeats on diseases, another example to demonstrate the function of SSR motifs is the insulin-like growth factor 1 ( IGF1 ) which was confirmed as one of the growth control genes. (hindawi.com)
  • Mutations larger than 200 CGG repeats trigger FMR1 heterochromatinization and loss of gene expression, which is primarily responsible for the pathological features of FXS. (miami.edu)
  • The pathological phenotype associated with mutations elsewhere in tau is less predictable with both typical neurofibrillary tangles (consisting of both 3 repeat and 4 repeat tau) and Pick bodies (consisting of 3 repeat tau) having been described. (wikipedia.org)
  • chromosome
  • Availability of the reference human genome sequence enabled the generation of oligonucleotide probes and short sequence markers (SNPs) mapped to specific chromosome positions that could then be used to generate microarray platforms to analyze DNA from specific patients to search for genomic copy number variants and genomic structural variants. (frontiersin.org)
  • The human genome is the complete set of nucleic acid sequences for humans , encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria . (wikipedia.org)
  • Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression , organization of chromosome architecture , and signals controlling epigenetic inheritance . (wikipedia.org)
  • familial
  • The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. (uniss.it)
  • We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic lateral sclerosis cases (21 of Sardinian ancestry) and 41 German index familial amyotrophic lateral sclerosis cases. (uniss.it)
  • Pathogenic repeat expansions were detected in 45 (37.5%) patients from mainland Italy, 12 (57.1%) patients of Sardinian ancestry and nine (22.0%) of the 41 German index familial amyotrophic lateral sclerosis cases. (uniss.it)
  • Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting. (edu.au)
  • This expansion was found to be present in a large proportion of familial and sporadic cases, particularly in the Finnish population For diagnostic purposes, magnetic resonance imaging (MRI) and ([18F]fluorodeoxyglucose) positron emission tomography (FDG-PET) are applied. (wikipedia.org)
  • genomic
  • RNA produced from genomic non-coding do it again expansions may disrupt regular RNA fat burning capacity by sequestering RNAs and protein involved with other transcription/translation occasions . (cancer-colorectal.com)
  • The name "satellite" DNA refers to the early observation that centrifugation of genomic DNA in a test tube separates a prominent layer of bulk DNA from accompanying "satellite" layers of repetitive DNA. (wikipedia.org)
  • occur
  • DNA polymerase slippage is more likely to occur when a repetitive sequence (such as CGCGCG) is replicated. (wikipedia.org)
  • The buildup of a repeat expansion with each generation is typically thought to occur because the DNA is unstable and therefore accumulates exponentially every time the gene is copied. (wikipedia.org)
  • Enzymatic DNA repair is part of routine maintenance for cells when structural damage like single or double stranded breaks occur. (sitran.org)
  • motifs
  • A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 1-6 or more base pairs) are repeated, typically 5-50 times. (wikipedia.org)
  • Similarly, insects have shorter repeat motifs in their telomeres that could arguably be considered microsatellites. (wikipedia.org)
  • G-quadruplex structures can be computationally predicted from DNA or RNA sequence motifs, but their actual structures can be quite varied within and between the motifs, which can number over 100,000 per genome. (wikipedia.org)
  • diseases
  • Capabilities for characterizing human DNA sequence variations, including sequence variations that led to human diseases were thus facilitated. (frontiersin.org)
  • The most relevant epigenetic modifications to treatment of neurodegenerative diseases are DNA methylation and histone protein modifications via methylation or acetylation. (wikipedia.org)
  • genes
  • 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)
  • Human genomes include both protein-coding DNA genes and noncoding DNA . (wikipedia.org)
  • the more tightly the DNA is bound by the nucleosome, and the more tightly a string of nucleosomes are compressed among each other, the greater the repressive effect on transcription of genes in the DNA sequences near or wrapped around the histones, and vice versa (i.e. looser DNA binding and relaxed compaction leads to a comparatively derepressed state, resulting in facultative heterochromatin or, even further derepressed, euchromatin). (wikipedia.org)
  • double-stranded
  • It binds to both single-stranded and double-stranded DNA, making contact with G residues in the purine-rich strand of its binding site. (wikipedia.org)
  • denotes
  • Cumulative data shows that Pur-alpha preferentially binds to the sequence (G2-4N1-3)n, where N is not G. N denotes a nucleotide, and n denotes the number of repeats of this small sequence. (wikipedia.org)
  • base pairs
  • Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote ) consist of three billion DNA base pairs , while diploid genomes (found in somatic cells ) have twice the DNA content. (wikipedia.org)
  • strands
  • One proposed cause of such length changes is replication slippage, caused by mismatches between DNA strands while being replicated during meiosis. (wikipedia.org)
  • If all strands of DNA proceed in the same direction, the quadruplex is termed parallel. (wikipedia.org)
  • enzyme responsible
  • DNA polymerase, the enzyme responsible for reading DNA during replication, can slip while moving along the template strand and continue at the wrong nucleotide. (wikipedia.org)
  • The enzyme responsible for removal of methyl group are called DNA demethylases. (wikipedia.org)
  • Inhibition
  • The Pur-alpha inhibition of cancer cell proliferation occurs at specific points in the cell division cycle, primarily at checkpoints for transition to DNA replication or mitosis. (wikipedia.org)
  • Repeating phrases or gestures, apathy, and loss of inhibition are frequently reported behavioral features of ALS. (wikipedia.org)
  • epigenetics
  • The term epigenetics refers to three levels of gene regulation: (1) DNA methylation, (2) histone modifications, and (3) non-coding RNA (ncRNA) function. (wikipedia.org)
  • Chromosomes
  • Because repair enzymes would naturally recognize ends of linear chromosomes as damaged DNA and would process them as such to harmful effect for the cell, clear signaling and tight regulation is needed at the ends of linear chromosomes. (wikipedia.org)
  • template strand
  • GC-RNA repeats are prone to hybridize with the DNA template strand during transcription producing a stable 3-stranded nucleic acid structure called an R-loop that predisposes DNA breakage. (sitran.org)
  • replication
  • In humans Pur-alpha functions to activate transcription in the nucleus, to facilitate RNA transport in the cytoplasm and to regulate DNA replication in the cell cycle. (wikipedia.org)
  • sequence
  • Pharmogenetic variants detected by DNA sequence analysis are gaining in importance and are particularly relevant to personalized and precision medicine. (frontiersin.org)
  • In addition, the Human Genome Project facilitated the development of technologies for high throughput sequencing of DNA and enhanced methods for DNA sequence analysis. (frontiersin.org)
  • N may be repeated up to three times in this sequence. (wikipedia.org)
  • Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. (wikipedia.org)
  • comparatively
  • The genome also includes the mitochondrial DNA , a comparatively small circular molecule present in each mitochondrion . (wikipedia.org)
  • sequences
  • Protein -coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences , LINEs , SINEs , introns , and sequences for which as yet no function has been determined. (wikipedia.org)
  • region
  • It may be that the repeat region grows in each successive generation, said Bradley Boeve of the Mayo Clinic in Rochester, Minnesota, in an interview with Alzforum. (alzforum.org)
  • genetic markers
  • 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)
  • present
  • Also discussed are important recent diagnostic applications of DNA sequencing in cancer, including analysis of tumor derived cell free DNA and exosomes that are present in body fluids. (frontiersin.org)
  • found
  • In addition, we found that 5hmC enrichment at the FMR1 locus in FXS cells is specific to neurons by utilizing a nuclei sorting technique to separate neuronal and glial DNA fractions from post-mortem brain tissues. (miami.edu)
  • successive generation
  • However, only 1 in 4 families exhibited significant anticipation in this study (n=63) It has been proposed that the amount of the repeat expansion increases with each successive generation, possibly causing the disease to be more severe in the next generation, showing onset up to a decade earlier with each successive generation after the carrier. (wikipedia.org)
  • contains
  • Human Pur-alpha contains three repeats of this Pur domain and bacterial Pur-alpha contains one. (wikipedia.org)
  • 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)
  • identification
  • They are widely used for DNA profiling in cancer diagnosis, in kinship analysis (especially paternity testing) and in forensic identification. (wikipedia.org)
  • structures
  • The term G4 DNA was originally reserved for these tetramolecular structures that might play a role in meiosis. (wikipedia.org)
  • cell
  • Applications involving analysis of cell free DNA in maternal blood for prenatal diagnosis of specific autosomal trisomies are reviewed. (frontiersin.org)