• locus
  • Since 2001 it has been discovered that DM2 is caused by a CCTG (cytosine-cytosine-thymine-guanine) expansion on chromosome 3 at locus 3q21, but as of 2004 it is not known how this repeat affects muscle cell function. (thefreedictionary.com)
  • Maculopathy has been reported in rare cases, and may be linked effects from the mutation on the ATXN1 locus on genes in neighboring loci. (wikipedia.org)
  • 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)
  • alleles
  • The alleles, which are a variant form of a gene involved in this form of MD are: PABPN1, (GCG)n EXPANSION, (GCG)8-13, PABPN1, (GCG)n EXPANSION, (GCG)7 and PABPN1, GLY12ALA. (wikipedia.org)
  • Normal alleles usually have 22 or 23 repeats, but can contain up to 31 repeats. (wikipedia.org)
  • More generally, where a gene exists in two allelic versions (designated A and a), three combinations of alleles are possible: AA, Aa, and aa. (wikipedia.org)
  • Thus, each gene also has a corresponding homologue, which may exist in different versions called alleles. (wikipedia.org)
  • 1997
  • A plasmid encoding the binding activity was purified and used to clone the complete bruno gene (Webser, 1997). (sdbonline.org)
  • several genes
  • The degree of disease aggressiveness depends on the number of repeats and resultant alteration in the expression of several genes. (omicsonline.org)
  • It appears to be involved in regulating gene expression based on its location in the nucleus of the cell, its association with promoter regions of several genes, and its interactions with transcriptional regulators and parts of the RNA splicing machinery. (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)
  • An expression screen based on the binding of Bru to its target sequence was designed in order to identify the gene coding for Bruno. (sdbonline.org)
  • There is a CAG repeat in the coding sequence which is longer in humans than other species (6-38 uninterrupted CAG repeats in healthy humans versus 2 in the mouse gene). (wikipedia.org)
  • 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)
  • onset
  • 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)
  • A larger expansion can result in an earlier age of onset in children than in their affected parent. (thefreedictionary.com)
  • As in several other trinucleotide-repeat disorders, there is a strong association between repeat length and age at disease onset, with higher repeat length leading to earlier onset. (bmj.com)
  • Repeats of 39 or more uninterrupted CAG triplets cause disease, and longer repeat tracts are correlated with earlier age of onset and faster progression. (wikipedia.org)
  • citation needed] There have been reported cases where a polyglutamine expansion may lengthen when passed down, which often can result in an earlier age-of-onset and a more severe disease phenotype for individuals who inherit the disease allele. (wikipedia.org)
  • Longer repeats are usually associated with earlier onset and more severe disease. (wikipedia.org)
  • causative gene
  • They cloned the causative gene/mutation and studied the in vitro biochemical consequences of the mutation, culminating in a 2001 paper An hPer2 phosphorylation site mutation in familial advanced sleep-phase syndrome, reporting the first circadian gene mutation in humans. (wikipedia.org)
  • huntingtin gene
  • The huntingtin gene, also called the HTT or HD (Huntington disease) gene, is the IT15 ("interesting transcript 15") gene, which codes for a protein called the huntingtin protein. (wikipedia.org)
  • Thus, the likelihood of neuronal death can be predicted by accounting for two factors: (1) the length of CAG repeats in the Huntingtin gene and (2) the neuron's exposure to diffuse intracellular mutant huntingtin protein. (wikipedia.org)
  • Disease
  • An expansion of the trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. (wikipedia.org)
  • Machado-Joseph disease is a type of spinocerebellar ataxia and is the most common cause of autosomal-dominant ataxia. (wikipedia.org)
  • The disease is caused by a mutation in the ATXN3 gene, which is located on chromosome 14q. (wikipedia.org)
  • This, in turn, could alter the expression of the genes ataxin-1 regulates, leading to disease. (wikipedia.org)
  • The PABPN1 mutation contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. (wikipedia.org)
  • 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)
  • 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)
  • The size of the repeat correlates with severity of the disease. (wikipedia.org)
  • The lab's current projects include: locating human sleep genes, uncovering the molecular mechanisms of human sleep regulation and human circadian rhythms, investigating mouse models with de/dys-myelinating disease, and classifying miRNAs that contribute to healthy myelin. (wikipedia.org)
  • Humans with this autosomal dominant disease typically go to bed around 7:00 p.m. and wake up at 3:00 a.m. (wikipedia.org)
  • Between 5 and 37 repeats is considered normal, while individuals with between 38 and 49 repeats are considered to have a pre-mutation and are at risk of having children with further expanded repeats and, therefore, symptomatic disease. (wikipedia.org)
  • Identifying trinucleotide repeats as the basis of disease has brought clarity to our understanding of a complex set of inherited neurological diseases. (wikipedia.org)
  • Although the causative genes are widely expressed in all of the known polyglutamine diseases, each disease displays an extremely selective pattern of neurodegeneration. (wikipedia.org)
  • The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called Huntingtin. (wikipedia.org)
  • In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. (wikipedia.org)
  • cDNA
  • Our approach is to combine physiological approaches (how fast, how steeply voltage-dependent, how is signal transduced) and biochemical experiments using cDNA microarrays (which genes, in what context, what relationship to learning and memory). (stanford.edu)
  • humans
  • This elongation is variable in length, with as few as 6 and as many as 81 repeats reported in humans. (wikipedia.org)
  • Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene. (wikipedia.org)
  • Most vertebrates have two orthologs of the gene (called ATXN2 and ATXN2L in humans), with the exception of birds which only have one. (wikipedia.org)
  • Fu traced the phenotype back to a point mutation in a gene called DEC2 that is associated with short sleep phenotype in humans. (wikipedia.org)
  • Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform is an enzyme that in humans is encoded by the PPP2R2B gene. (wikipedia.org)
  • Blood types in humans is determined by a gene that creates an A, B, AB or O blood type and is located in the long arm of chromosome nine. (wikipedia.org)
  • neuronal
  • We study how synaptic transmission and depolarization cause changes in neuronal gene expression. (stanford.edu)
  • One example of such signaling involves a local increase in Ca2+ concentration near a class of Ca2+ channels (L-type) different from those that trigger presynaptic transmitter release, subsequently leading to activation of an exemplar transcription factor, CREB, a regulator of transcription of many important neuronal genes. (stanford.edu)
  • How polyglutamine expansion in Ataxin-1 causes neuronal dysfunction and degeneration is still unclear. (wikipedia.org)
  • genomic
  • Purification of genomic DNA from each patient's blood sample was carried out and the expansion of CTG repeats in the third intron of TCF4 was subsequently examined by polymerase chain reaction (PCR). (arvojournals.org)