• allele
  • As normal copies of disease genes likely encode essential proteins, normal allele haploinsuffi-ciency may contribute to myopathic phenotypes as well. (fitness-vip.com)
  • 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)
  • 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)
  • The disease allele usually contains 34-52 CAG repeats, but can contain as few as 32 or more than 100, and can expand in size when transmitted to successive generations. (wikipedia.org)
  • alleles
  • 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)
  • 20 AR CAG n repeats had an increased risk for breast cancer, odds ratio of 1.67 (95% confidence interval, 1.17-2.38), compared with those with two alleles with ≥20 repeats. (aacrjournals.org)
  • However, no significant differences were observed by comparing these two types of alleles to an intermediate number of CAG repeats (20 or 24) (8, 9). (blogspot.ca)
  • 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)
  • Normal alleles usually have 22 or 23 repeats, but can contain up to 31 repeats. (wikipedia.org)
  • proteins
  • However, it must be taken into consideration that this specific range may not be the same across different ethnic groups and may even vary in different tissues because the effect of polyQ repeat on transactivation is cell specific, presumably due to distinct profiles of coregulator proteins (11). (blogspot.ca)
  • genetic
  • 4 , 5 So far, many genes have been attributed to cause this disease, thereby revealing its genetic complexity. (arvojournals.org)
  • Longer expansions can cause spinocerebellar ataxia type 2 (SCA2), a fatal progressive genetic disorder in which neurons degenerate in the cerebellum, inferior olive, pons, and other areas. (wikipedia.org)
  • 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)
  • Another effect of these mobile DNA sequences is that when they move within a genome, they can mutate or delete existing genes and thereby produce genetic diversity. (wikipedia.org)
  • However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), it contains more than 36 glutamine residues (highest reported repeat length is about 250). (wikipedia.org)
  • short repeats
  • Investigations of the relation between the AR polymorphism and breast cancer ( Table 1 ) have been conflicting, variably reporting that short repeats are associated with a decreased risk ( 14 - 18 ) or are not associated with risk ( 19 - 21 ) or are associated with decreased breast cancer survival ( 16 , 22 , 23 ). (aacrjournals.org)
  • genomes
  • 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)
  • genomic
  • PCR primers flanking the TGC repeat were used to amplify leukocyte-derived genomic DNA. (jove.com)
  • Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. (wikipedia.org)
  • tandem
  • Repeat length was determined by direct sequencing, short tandem repeat (STR) assay and Southern blotting. (jove.com)
  • This method takes advantage of two key elements, the tandem repeat of the telomere sequence and the sensitivity of the qRT-PCR to detect differential copy numbers of tested samples. (jove.com)
  • pathogenic
  • 50 is highly specific for the disease This association suggests that trinucleotide expansion may play a pathogenic role in the majority of FECD cases and is a predictor of disease risk. (jove.com)
  • Fuchs
  • Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy. (nih.gov)
  • allelic
  • (12) tested the putative association between normal allelic variants of the BRCA1 gene with breast and ovarian cancer but concluded that the most common polymorphisms of this gene did not make a significant contribution to breast or ovarian cancer risk in the general population. (aacrjournals.org)
  • Huntingtin
  • The gene and its product are under heavy investigation as part of Huntington's disease clinical research and the suggested role for huntingtin in long-term memory storage. (wikipedia.org)
  • 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)
  • promoter
  • 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)
  • human
  • Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene. (wikipedia.org)
  • GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 8 Human ATXN8OS genome location and ATXN8OS gene details page in the UCSC Genome Browser. (wikipedia.org)
  • Thus the AR activates these genes to mediate the effects of androgens in the human body, including the development and maintenance of the male sexual phenotype and generalized anabolic effects. (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)
  • Human CNDP1 genome location and CNDP1 gene details page in the UCSC Genome Browser. (wikipedia.org)
  • 1991). "Human gamma-crystallin genes. (wikipedia.org)
  • 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)
  • telomerase
  • In contrast, elongation is partially modulated by the enzyme telomerase, which adds repeating sequences to the ends of the chromosomes. (jove.com)
  • length
  • Telomeres are repeating DNA sequences at the tip ends of the chromosomes that are diverse in length and in humans can reach a length of 15,000 base pairs. (jove.com)
  • length polymorphism and gene regulation. (jbsdonline.com)
  • To support this hypothesis, a clear negative impact on AR activity is documented in relationship with pathological expansions of the repeat length (40 or more), known as the Kennedy syndrome (5). (blogspot.ca)
  • Clinical observations showing a linear correlation between testosterone level and CAG repeat length support the notion of a functional effect of the polymorphism within the normal range. (blogspot.ca)
  • These novel in vitro findings have introduced a new concept for the analysis of AR-CAG repeat length in relationship to AR-related diseases, indicating that linear regression models are likely to be inappropriate. (blogspot.ca)
  • 6 . A polynucleotide according to claim 4 or 5 , wherein the spacer region is from seven to fifteen nucleotides in length and/or the region complementary to the target gene is from nineteen to twenty-one bases in length. (google.com)
  • This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. (wikipedia.org)
  • sequence
  • The sequence of the ATN1 gene contains a nuclear localizing signal (NLS) and a nuclear export signal (NES). (wikipedia.org)
  • repetitive
  • 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)
  • normal
  • Presumably the expansion interferes with normal antisense function of this transcript. (wikipedia.org)
  • The normal distribution of the (CAG)n is reported as 6-39 repeats, with a median of 21-22 in White Caucasian, 19-20 in African-American, 22-23 in Asian, and 23 in Hispanic populations. (blogspot.ca)
  • Normal persons have a CAG repeat count of between seven and 35 repeats. (wikipedia.org)
  • strongly
  • There are several strongly linked polymorphisms in the 3′ untranslated region of VDR that are of unclear functional significance ( 26 - 28 ) but that nevertheless have been associated with risk of prostate cancer ( 29 - 31 ) and osteoporosis ( 28 , 32 - 34 ). (aacrjournals.org)
  • blacks
  • Now it appears that compared to blacks, whites may in fact be more likely to have "optimal" CAG repeat lengths. (blogspot.ca)
  • The average number of repetitions varies by ethnicity, with Caucasians exhibiting an average of 21 CAG repeats, and Blacks 18. (wikipedia.org)
  • regulates
  • Among TD-related genes, FOXE1 gene plays an important role in the migration of precursor cells from thyroid follicles, in addition to being a factor that regulates the transcription of target genes such as thyroglobulin and thyroperoxidase [ 14 ]. (hindawi.com)
  • significantly
  • In 2010, work from Aaron Gitler and Nancy Bonini at the University of Pennsylvania discovered that intermediate-size CAG repeat expansions are significantly associated with risk for developing amyotrophic lateral sclerosis (Lou Gehrig's disease). (wikipedia.org)