• proteins
  • Mitochondria, however, depend on other proteins that are encoded by nuclear genes, constructed in the cytoplasm and then transported into the mitochondria. (wikipedia.org)
  • In contrast, in mutant strains carrying mutations in proteins involved in DNA replication or repair, expansions are frequently seen. (embopress.org)
  • As normal copies of disease genes likely encode essential proteins, normal allele haploinsuffi-ciency may contribute to myopathic phenotypes as well. (fitness-vip.com)
  • We find that expression of pathogenic polyQ protein modulates repeat instability of CAG 270 in trans , indicating that pathogenic-length polyQ proteins may globally modulate repeat instability in the genome in vivo . (genetics.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)
  • Over the past decade a number of reports have described the design of synthetic genes, which encode elastin-like proteins (ELP) for bacterial expression in Escherichia coli . (pubmedcentralcanada.ca)
  • In simple terms, the protein produced by the ATM gene recognizes that there is a break in DNA, recruits other proteins to fix the break, and stops the cell from making new DNA until the repair is complete. (wikipedia.org)
  • no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. (wikipedia.org)
  • Genetic
  • This review provides a summary of the recent findings in genetic background of TS, followed by an overview on different epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs in the regulation of gene expression. (frontiersin.org)
  • In the DMPK gene, there is a section of the genetic code called a CTG repeat. (thefreedictionary.com)
  • Loss-of-function contributions to dominant disease can be predicted from knockout mouse models and by examining genetic case studies, in which different mutations in the same gene give rise to dominant and recessive myopathies. (fitness-vip.com)
  • 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)
  • We undertook an in-vitro genetic screen of key thiol-disulfide oxidoreductases then completed secondary screens to identify those with mHTT decreasing properties. (plos.org)
  • citation needed] Trinucleotide repeat disorders generally show genetic anticipation, where their severity increases with each successive generation that inherits them. (wikipedia.org)
  • Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline, behavioural abnormalities and progressive disease course proves negative to the genetic testing for HD causative mutations, that is, IT15 gene trinucleotide-repeat expansion. (bmj.com)
  • Diagnosis is by genetic testing to determine the number of CGG repeats in the FMRI gene. (wikipedia.org)
  • promoter
  • 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)
  • 2 . A polynucleotide according to claim 1 , wherein the promoter is the RNA polymerase III H1-RNA gene promoter or a functional derivative thereof. (google.com)
  • 3 . A polynucleotide according to claim 1 , wherein the promoter is the RNA polymerase III 5S, U6, adenovirus VA1, Vault, telomerase RNA, or tRNA gene promoter or a functional derivative thereof. (google.com)
  • inhibit
  • 15 . Use of a polynucleotide according to any one of claims 1 to 10 or a vector according to claim 11 to inhibit or reduce the expression of a gene. (google.com)
  • bacteria
  • 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)
  • Although an increased abundance of heptameric repeats was noted in bacteria, reports of studies of longer SSRs of 6-9 nt are rare. (uni-konstanz.de)
  • instability
  • 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)
  • 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)
  • Another source of genome instability may be epigenetic or mutational reductions in expression of DNA repair genes. (wikipedia.org)
  • sequences
  • The translation of highly repetitive gene sequences is often associated with reduced levels of protein expression and may be prone to mutational events. (pubmedcentralcanada.ca)
  • Specifically, degenerate oligonucleotides were used to create a monomer library, which after concatemerization yielded a genetically nonrepetitive DNA sequence that encoded identical pentapeptide repeat sequences. (pubmedcentralcanada.ca)
  • Evidence for GQP formation of the consensus repeat sequences was found by the observation of characteristic spectral changes in CD spectroscopy. (uni-konstanz.de)
  • A connection between abundant G-rich repeat sequences and GQP forming sequences was made, topics that previously had been treated separately in the literature. (uni-konstanz.de)
  • cytosine
  • The letters stand for three nucleotides (complex organic molecules) known as cytosine, thymine, and guanine, and are repeated a certain number of times. (thefreedictionary.com)
  • This expansion results in a larger than normal number of repeats of the nucleotide sequence cytosine, adenine, guanine, or CAG, in the gene which, in turn, results in a larger than normal number of consecutive glutamine residues in the protein. (wikipedia.org)
  • carriers
  • 1999). Dominant NM patients have one mutant and one normal TPM3 gene copy, while human carriers of recessive alleles and TPM3+/- mice are normal, and TPM3-/- animals die as embryos (Lehtokari et al. (fitness-vip.com)
  • involvement
  • Any dysfunction of these systems may be of pathological relevance for optic neuropathies with primary or secondary involvement of mitochondria. (wikipedia.org)
  • regulation of gene ex
  • The fungal pathogen Cryptococcus neoformans employs posttranscriptional regulation of gene expression as part of the transcriptome reprogramming that accompanies cellular stress ( 1 - 3 ). (asm.org)
  • encodes
  • In this report, we describe a modified concatemerization strategy to construct a gene with enhanced sequence diversity that encodes a highly repetitive elastin-like protein polymer for expression in Pichia pastoris . (pubmedcentralcanada.ca)
  • generations
  • First, individuals with autism have significantly reduced fecundity, they are 20 times less likely to have children than average, thus curtailing the persistence of mutations in ASD genes over multiple generations in a family. (wikipedia.org)
  • severity
  • Likewise, disease allele-specific RNAi therapies may be important for Caveolin-3-related myopathies, as normal Cav-3 gene dosage impacts muscle disease severity (Carbone et al. (fitness-vip.com)
  • replication
  • In addition, stalling of the replication fork could result in double-strand breaks (DSBs) or fork reversal, leading to repeat length alterations ( M irkin and M irkin 2007 ). (genetics.org)
  • human
  • Bio-Rad collaborated with Biogazelle, leaders in real-time PCR research, to design and experimentally validate PCR primers for gene expression assays across the human and mouse transcriptomes. (bio-rad.com)
  • 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)
  • Simple sequence repeats are highly abundant in the human genome and also ubiquitous in prokaryotes. (uni-konstanz.de)
  • expression
  • Trinucleotide-repeat expansion within the HTT gene results in expression of a polyglutamine-expanded mutant huntingtin protein (mHTT). (plos.org)
  • Reference genes are used in relative gene expression analysis to normalize for variation in the amount of input messenger RNA (mRNA) among samples. (bio-rad.com)
  • To ensure accurate quantitation, it is important to include one or more reference genes exhibiting constant expression levels under the experimental conditions. (bio-rad.com)
  • Cancers are very often deficient in expression of one or more DNA repair genes, but over-expression of a DNA repair gene is unusual in cancer. (wikipedia.org)
  • 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)
  • deletion
  • A second, homologous protein, Gis2, was identified in the genome of C. neoformans and also bound the 3′-UTR probe, and deletion of both genes resulted in loss of binding in cell extracts. (asm.org)
  • normal
  • People who have repeat numbers in the normal range will not develop DM1 and cannot pass it to their children. (thefreedictionary.com)
  • The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair. (wikipedia.org)
  • 2008). In both NM and LGMD1C examples, it would be advantageous to restrict gene knockdown to the affected allele while leaving the normal allele unperturbed. (fitness-vip.com)
  • thus
  • The Mre11 complex thus appears to be directly involved in removing CAG or CTG hairpins that arise frequently during DNA synthesis accompanying gene conversion of these trinucleotide repeats. (embopress.org)
  • alleles
  • 10 . A polynucleotide according to any one of the preceding claims, wherein the siRNA is capable of discriminating between different alleles of the same gene. (google.com)
  • found
  • These DNA primer pairs were designed by prioritizing the gene regions most commonly found in transcript variants. (bio-rad.com)