• proteins
  • Nucleotide excision repair proteins are mobilized to this area where one likely outcome is the expansion of nucleotides in the template strand while the other is the absence of nucleotides. (wikipedia.org)
  • If these repeats are found in coding regions then the variations to the polynucleotide sequence can result in the formation of abnormal proteins in eukaryotes. (wikipedia.org)
  • At MGH, Suh has also studied the role of FE56 and FE65L1 APP-binding proteins on APP processing in neurons and identified abnormal eye and muscle phenotypes in the knockout mice for the two genes. (mghmind.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)
  • fragile
  • At this point, there are from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome in these patients, as compared with 60 to 230 repeats in carriers and 5 to 54 repeats in unaffected individuals. (wikipedia.org)
  • Minor expansions of CGG repeats that do not cause fragile X syndrome are associated with an increased risk for premature ovarian aging, also called occult primary ovarian insufficiency, a condition in which women prematurely deplete their ovarian function. (wikipedia.org)
  • Normal is between 5 and 40 repeats, fragile X syndrome occurs with more than 200, and a premutation is said to be present when a middle number of repeats occur. (wikipedia.org)
  • DRPLA
  • DRPLA displays anticipation, an inverse correlation between the size of the expanded CAG repeat and the age of symptom onset. (wikipedia.org)
  • sequence
  • In people who have DM1, this sequence of nucleotides is repeated too many times-more than the normal number of 37 times-and thus this section of the gene is too big. (thefreedictionary.com)
  • A slippage event normally occurs when a sequence of repetitive nucleotides (tandem repeats) are found at the site of replication. (wikipedia.org)
  • SCA types 1-3, 6-10, 12, and 17 result from a trinucleotide repeat expansion in the DNA-coding sequence. (biomedcentral.com)
  • The 5' end of the HD gene has a sequence of three DNA bases, cytosine-adenine-guanine (CAG), coding for the amino acid glutamine, that is repeated multiple times. (wikipedia.org)
  • The sequence of the ATN1 gene contains a nuclear localizing signal (NLS) and a nuclear export signal (NES). (wikipedia.org)
  • For example, more than a million copies of the Alu sequence are present in the human genome, and these sequences have now been recruited to perform functions such as regulating gene expression. (wikipedia.org)
  • Huntingtin
  • Huntingtin upregulates the expression of Brain Derived Neurotrophic Factor (BDNF) at the transcription level, but the mechanism by which huntingtin regulates gene expression has not been determined. (wikipedia.org)
  • instability
  • The chromosomal instability resulting from this trinucleotide expansion presents clinically as intellectual disability, distinctive facial features, and macroorchidism in males. (wikipedia.org)
  • Another source of genome instability may be epigenetic or mutational reductions in expression of DNA repair genes. (wikipedia.org)
  • locus
  • Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus. (wikipedia.org)
  • Genomes
  • The HD gene is found in all human genomes. (wikipedia.org)
  • These duplications are a major source of raw material for evolving new genes, with tens to hundreds of genes duplicated in animal genomes every million years. (wikipedia.org)
  • ATAXIN
  • Certain brain cells called Purkinje cells seem to be particularly sensitive to the presence of abnormal ataxin-2. (nih.gov)
  • autosomal dominant
  • MJD is an autosomal dominant disease, meaning that if either parent gives the defective gene to a child, the child will show symptoms of the disease. (wikipedia.org)
  • symptoms
  • In general, the more repeats in the affected range that someone has, the earlier the age of onset of symptoms and the more severe the symptoms. (thefreedictionary.com)
  • It is not possible to look at a person's repeat number and predict at what age they will begin to have symptoms or how their condition will progress. (thefreedictionary.com)
  • A limitation to this test is that if the number of CAG repeats in an individual being tested falls between the healthy and pathogenic ranges (45-60 repeats), then the test cannot predict whether an individual will have MJD symptoms. (wikipedia.org)
  • In general, the more repeats above 38 an individual has, the earlier the age of onset of symptoms and the more severe the symptoms. (healthofchildren.com)
  • complex
  • DNA polymerase reassembles its position on the template strand and resumes normal replication, but during the course of reassembling, the polymerase complex backtracks and repeats the insertion of deoxyribonucleotides that were previously added. (wikipedia.org)
  • Intriguingly, recent work has demonstrated that increased trinucleotde expansions in the SCA7 gene result in defect in the function of the SAGA histone acetyltransferase complex. (biomedcentral.com)
  • We demonstrate that Sgf73 is required to recruit the histone deubiquitination module into both SAGA and the related SliK(SALSA) complex, and to maintain levels of histone ubiquitination, which is necessary for regulation of transcription at a number of genes. (biomedcentral.com)
  • neurons
  • Respiratory musculature weakness Action tremor Babinski response: when the bottom of the foot is scraped, the toes bend down (an abnormal response would be an upward movement of the toes indicating a problem with higher-level (upper) motor neurons). (wikipedia.org)
  • insertion
  • 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)
  • results
  • This results in some repeats found in the template strand being replicated twice into the daughter strand. (wikipedia.org)
  • citation needed] Recent results suggest that the CAG repeats need not always be translated in order to cause toxicity. (wikipedia.org)
  • normal
  • People who have repeat numbers in the normal range will not develop DM1 and cannot pass it to their children. (thefreedictionary.com)
  • Normal persons have a CAG repeat count of between seven and 35 repeats. (wikipedia.org)
  • The gene expression, called heterozygous-normal/low may cause PCOS-like excessive follicle-activity and hyperactive ovarian function when women are younger. (wikipedia.org)