Contains gene contains trinucleotide repeat expansion. Medical search. Frequent questions

A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. (wikipedia.org)
Anticipation typically occurs with disorders that are caused by an unusual type of variant (mutation) called a trinucleotide repeat expansion. (medlineplus.gov)
The knock-in mice carrying a 72-80 CAG repeat mutation is an accurate genetic model of early stage HD, displaying a more subtle disease phenotype. (nih.gov)
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. (nature.com)
The underlying defect is a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9 with 90% of those studied being homozygous for expanded alleles and over half of the remaining patients being compound heterozygotes, carrying one allele with a repeat expansion and the other with a point mutation. (bmj.com)
For instance, if you've got a mutation caused by triplet repeat expansion, for instance in the Huntington's gene, where the trinucleotide repeats a CAG, you might have 17 CAGs in a normal chromosome. (hstalks.com)
Some occur in the coding region of the gene, others occur in the five prime region and others occur in the three prime region, and these have different consequences on the function of the gene and the results of the mutation. (hstalks.com)
The mutation leads to the abnormal expansion of the production of the polyglutamine tract (polyQ) resulting in the form of an unstable Huntingtin protein commonly referred to as mutant Huntingtin. (benthamscience.com)
YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. (geneticsmr.com)
Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). (geneticsmr.com)
This tutorial looks at the mutation at the gene level and the harm it may bring. (biologyonline.com)
Individuals with pre-mutation alleles have 59-230 repeats whereas individuals with intermediate sized alleles ("gray zone" alleles) have 41-58 repeats, broadly defined. (uab.edu)
If a homozygous female, premutation, or full mutation is identified or suspected, a second tier of testing consists of Eco RI and Eag I restriction digest followed by Southern blot analysis using the DNA probe, StB12.3 to determine methylation status of the FMR1 gene and approximate number of trinucleotide repeats. (uab.edu)
The type of mutation that causes myotonic dystrophy type 1 is known as a trinucleotide repeat expansion. (encyclopedia.pub)
This mutation increases the size of the repeated CTG segment in the DMPK gene. (encyclopedia.pub)
The vesicle-associated membrane protein B (VAPB) gene has been genetically linked to ALS in several large Brazilian families in which the disorder is caused by a proline to serine mutation at codon 56 (P56S). (bvsalud.org)
RESULTS: Our study failed to identify any novel VAPB gene mutations but identified a single Brazilian family harboring the P56S mutation. (bvsalud.org)
Cytogenetic expression results from CGG tri-nucleotide-repeat expansion mutation associated with local CpG hypermethylation and transcriptional silencing. (edu.au)
Type 2 DM (DM2) is milder and involves a CCTG repeat expansion mutation of the cellular nucleic acid binding protein gene CNBP (previously known as ZFN9) on chromosome 3q21.3. (msdmanuals.com)
The mutation associated with clinical manifestations of HD is a CAG trinucleotide repeat expansion in the HD gene (3). (torvergata.it)
Now, a research team in Lund has finally pinpointed a mutation in the ZFHX3 gene as the cause of the disease. (lu.se)

The decision to rescreen a patient should be undertaken only with the guidance of a genetics professional who can best assess the incremental benefit of repeat testing for additional mutations. (acog.org)
other mutations involving the FMR1 gene can cause FXS if they prevent production or alter functional domains of the encoded protein, the fragile X mental retardation protein (FMRP) ( O'Donnell and Warren, 2002 ). (jneurosci.org)
Genetic disorders result from new or inherited gene mutations . (amboss.com)
What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. (cdc.gov)
Mutations in the DMPK gene cause a form of myotonic dystrophy known as myotonic dystrophy type 1. (encyclopedia.pub)
OBJECTIVE: Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). (bvsalud.org)
This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS. (bvsalud.org)
We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. (bvsalud.org)
In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS. (bvsalud.org)
CONCLUSIONS: Mutations in the VAPB gene are rare and the Delta S160 variant does not contribute to the development of amyotrophic lateral sclerosis. (bvsalud.org)
Spontaneous mutations in the genes for Fuchs' dystrophy also can cause new Fuchs' dystrophy in a person with no family history. (eyewiki.org)
An early-onset form of Fuchs' dystrophy is caused by mutations in the COL8A2 gene [11] and is associated with formation of bullous keratopathy, or corneal blisters, within the first few decades of life. (eyewiki.org)

The FMR1 gene provides instructions for making a protein called FMRP. (medlineplus.gov)
One region of the FMR1 gene contains a particular DNA segment known as a CGG trinucleotide repeat, so called because this segment of three DNA building blocks (nucleotides) is repeated multiple times within the gene. (medlineplus.gov)
A trinucleotide repeat expansion in the FMR1 gene increases a woman's risk of developing a condition called fragile X-associated primary ovarian insufficiency (FXPOI). (medlineplus.gov)
In this condition, the CGG trinucleotide repeat in the FMR1 gene is repeated about 55 to 200 times, which is referred to as a premutation. (medlineplus.gov)
For unknown reasons, the premutation leads to the overproduction of abnormal FMR1 mRNA that contains the repeat expansion. (medlineplus.gov)
In addition, the repeats make producing protein from the blueprint more difficult, and consequently, some people with the FMR1 gene premutation have lower than normal amounts of FMRP. (medlineplus.gov)
Men, and some women, with an FMR1 gene premutation are at increased risk of developing a disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). (medlineplus.gov)
As in FXPOI (described above), the premutation causes overproduction of abnormal FMR1 mRNA containing the expanded repeat region, and researchers believe that this abnormal mRNA causes FXTAS. (medlineplus.gov)
Almost all cases of fragile X syndrome are caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene. (medlineplus.gov)
Fragile X syndrome (FXS) is caused by expansion of the CGG trinucleotide repeat in the Fragile X Mental Retardation gene, FMR1 . (ny.gov)
The absence of FMR1 protein causes the characteristics of FXS, but CGG expansion is variable, leading to mosaicism within individuals and the range of characteristics seen in patients. (ny.gov)
Trinucleotide repeat expansion in the FMR1 gene is caused by instability in early development and during germ cell production and is thought to be a result of DNA polymerase slippage during DNA replication. (ny.gov)
Using a method called SMARD, for single-molecule analysis of replicated DNA, the team observed that FXS hESCs use a different origin of replication, changing the direction of DNA replication through the FMR1 gene, than normal hESCs. (ny.gov)
DESCRIPTION (provided by applicant): Expansion of the trinucleotide repeat CGG in the FMR1 gene causes dysregulation of FMR1 protein expression and results in a host of serious conditions, from cognitive impairment, autism, ovarian failure, and progressiveneurological disorders. (sbir.gov)
In 1991, an international team of scientists, led by Dr. Warren, discovered the FMR1 gene and the mechanisms of trinucleotide repeat expansion that caused the fragile X phenotype. (emory.edu)
200-trinucleotide repeat expansion in the 5′ untranslated region of the fragile X mental retardation 1 (FMR1) gene. (cogstate.com)
Fragile X syndrome, the most common form of inherited mental retardation, is the result of an unstable expansion of a CGG trinucleotide repeat in the 5′ UTR of the fragile X mental retardation-1 (FMR1) gene. (auckland.ac.nz)
The abnormal hypermethylation of the expanded CGG repeats causes the transcriptional silencing of the FMR1 gene and, consequently, the loss of the fragile X mental retardation protein (FMRP). (auckland.ac.nz)
Fragile X is usually caused by a trinucleotide expansion in the FMR1 gene on the X chromosome. (uab.edu)
The best studied is the FRAXA site in the FMR1 gene, where large expansions cause fragile X syndrome, the most common inherited ID syndrome. (edu.au)

Andrew, S.E., Goldberg, Y.P. & Hayden, M.R. Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. (nature.com)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. (cdc.gov)

Here, we test the hypothesis that variation within the IT15 gene on chromosome 4, whose expansion causes Huntington's disease, influences normal human brain structure. (uni-muenchen.de)
In 278 normal subjects, we determined CAG repeat length within the IT15 gene on chromosome 4 and analyzed high-resolution T1-weighted magnetic resonance images by the use of voxel-based morphometry. (uni-muenchen.de)
The 2100 amino acid protein frataxin is encoded within the first intron of the FXN gene on chromosome 9q13. (wjgnet.com)
In patients with Prader-Willi syndrome (PWS) and Angelman syndrome (AS), the imprinted gene abnormality is the 15q11-q13 region of chromosome 15. (wjgnet.com)
If the neurofibromatosis - 1 gene on chromosome 17 is either mutated or deleted, either no protein product is formed, or a mutated protein is made. (wjgnet.com)
Friedreich's ataxia (FA) is an autosomal recessive condition caused by a GAA trinucleotide repeat expansion in the X25 gene on chromosome 9. (bmj.com)
Dr. Warren used the unusual fragility of the X chromosome in patients with fragile X as a tool to begin the search for the causative gene, a tool that he shared with the other top scientists in the fragile X field. (emory.edu)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.com)
But in a diseased chromosome, you might have 40 successive copies of CAG trinucleotides in the gene. (hstalks.com)
It is caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the huntingtin ( HTT ) gene on chromosome 4, which is responsible for the expression of the protein huntingtin ( Nance, 2017 ). (frontiersin.org)
Type 1 DM (DM1) involves expansion of a CTG trinucleotide repeat of the DMPK gene located on chromosome 19. (msdmanuals.com)

The number of trinucleotide repeats appears to predict the progression, severity, and age of onset of Huntington's disease and similar trinucleotide repeat disorders. (wikipedia.org)
In 1993, for Huntington's disease (HD), a longer-than-usual CAG repeat with was found in the exon 1 coding sequence. (wikipedia.org)
Huntington's disease (HD) is a progressive and fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene. (nature.com)
Variation within the Huntington's disease gene influences normal brain structure. (uni-muenchen.de)
Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. (uni-muenchen.de)
We found an increase of GM with increasing long CAG repeat and its interaction with age within the pallidum, which is involved in Huntington's disease. (uni-muenchen.de)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. (nature.com)
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. (nature.com)
Inactivation of the mouse Huntington's disease gene homolog hdh . (nature.com)
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. (nature.com)
Trottier, Y., Biancalana, V. & Mandel, J.L. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. (nature.com)
Huntington's disease is a genetic neurological disorder caused by a repeated expansion of the CAG trinucleotide, causing instability in the N-terminal of the gene coding for the Huntingtin protein. (benthamscience.com)
REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. (geneticsmr.com)
Huntington's disease (HD) is a neurodegenerative disorder caused by an unstable CAG repeat. (torvergata.it)

In 1992, for myotonic dystrophy type 1 (DM1), CTG expansion was found in the myotonic dystrophy protein kinase (DMPK) 3' UTR. (wikipedia.org)
Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat sequence leading to an increase in the number of glutamine residues in the encoded protein 1 . (nature.com)
With increasing repeat number, the protein changes conformation and becomes increasingly prone to aggregation 11 , suggesting important functional correlations between repeat length and pathology. (nature.com)
Normal individuals have CGG repeats ranging from 6 to 54 copies, but FXS patients frequently have over 200 copies, resulting in transcriptional silencing of the gene such that no protein is produced. (ny.gov)
Furthermore, we believe that these results could signal the potential for the accumulation of exon 51 skipped transcript and dystrophin protein in muscle tissue with repeated doses of PGN-EDO51 in people living with DMD. (tipranks.com)
A family of predominantly nuclear proteins that regulate gene transcription and protein degradation. (bvsalud.org)
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. (cdc.gov)
DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. (encyclopedia.pub)

Individuals with intermediate alleles (27-35 cytosine-adenine-guanine [CAG] repeats) typically do not have symptoms of Huntington disease (HD). (arupconsult.com)
Those with intermediate alleles are prone to this repeat instability and may have children with an HD-causing allele. (arupconsult.com)
DNA analysis of the FRATAXIN gene in the patient showed that the GAA expansion was present in one allele but not the other, while her mother was negative for the GAA expansion in both alleles. (bmj.com)
In a population of 250 individuals , there will be a total of 500 gene copies (all individuals carry two alleles of a gene ). (amboss.com)
The considered normal alleles have less than 27 CAG repeats. (geneticsmr.com)
Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. (geneticsmr.com)

Human genetics is the study of the human genome and the transmission of genes from one generation to the next. (amboss.com)

because of this, it took almost 200 years for a link between onset of disease and trinucleotide repeats (TNR) to be acknowledged. (wikipedia.org)
During the decade after evidence that linked TNR to onset of disease was found, focus was placed on studying repeat length and dynamics on diseases, as well as investigating the mechanism behind parent-child disease inheritance. (wikipedia.org)
Currently, CAG repeat length is considered the biggest onset age modifier for TNR diseases. (wikipedia.org)
In order to identify genes that may modify disease onset and progression, genome-wide association and gene expression studies have been performed 12 , 13 . (nature.com)
A higher number of CAG repeats is associated with an earlier age of onset. (arupconsult.com)
The number of repeats determines the risk and likely age of onset for symptom development. (arupconsult.com)
In SCA patients, the number of CAG repeats correlates with the severity of disease and inversely correlates with the age of disease onset. (bvsalud.org)
Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease. (utswmed.org)
Using the largest cohort of HD patients analyzed to date (2913 individuals from 40 centers worldwide), we developed a parametric survival model based on CAG repeat length to predict the probability of neurological disease onset (based on motor neurological symptoms rather than psychiatric onset) at different ages for individual patients. (torvergata.it)
We provide estimated probabilities of onset associated with CAG repeats between 36 and 56 for individuals of any age with narrow confidence intervals. (torvergata.it)

50 repeat units and cause Fuchs endothelial corneal dystrophy. (nih.gov)
The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. (nih.gov)
TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy. (utswmed.org)
[1] In most people, the "CTG" set of three consecutive nucleotides at this specific location in their DNA repeats approximately 10 to 20 times, whereas in most people with Fuchs dystrophy, it repeats at least 40 to 50 times, averaging close to 100 repeats. (eyewiki.org)
[2] In large cohorts of people with Fuchs' dystrophy, approximately two out of three people harbor this genetic variant, an expanded trinucleotide repeat. (eyewiki.org)
The most prevalent genetic risk factor for Fuchs' dystrophy is the CTG18.1 trinucleotide repeat expansion in TCF4 . (eyewiki.org)

However, large expansions of the CAG repeat region can occur during sperm formation. (arupconsult.com)

DNA segments with an abnormal number of these repeats are unstable and prone to errors during cell division. (medlineplus.gov)
Huntington disease (HD) is a neurodegenerative disorder caused by an unstable and progressive expansion of a CAG trinucleotide repeat tract in the HD gene. (nih.gov)
In these cases, CGG is abnormally repeated more than 200 times, which makes this region of the gene unstable. (medlineplus.gov)

DNA analysis was negative for the autosomal dominant spinocerebellar ataxia genes of types 1, 2, 3, and 6. (bmj.com)
Spinocerebellar ataxia type 4 was one of these, but now a research team in Lund, Sweden, have identified the gene that is responsible. (lu.se)

Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. (nih.gov)
These data suggest that the previous associations between bipolar disorder and large CAG/CTG repeats might be explained at least in part by a specific association between bipolar disorder and either or both of these loci. (cardiff.ac.uk)
[5] By collaborating together, this approach garnered the statistical power to discern that, while the TCF4 genetic variant demonstrated the strongest association, three additional chromosomal loci each significantly contributed to risk of disease, located at the KANK4 , LAMC1 and LINC00970/ATP1B1 genes. (eyewiki.org)

Our results show that Msh2 is required for somatic instability of the CAG repeat. (nature.com)
Figure 3: Levels of CAG repeat instability in various tissues from Msh2 -/- , Msh2 +/- and Msh2 +/+ mice. (nature.com)

Other human diseases in which triplet repeat expansion occurs are fragile X syndrome, several spinocerebellar ataxias, myotonic dystrophy and Friedreich's ataxia. (wikipedia.org)
In 1991, for fragile X syndrome, the fragile X mental retardation 1 (FMR-1) gene was found to contain a CGG expansion in its 5' untranslated region (UTR). (wikipedia.org)
Human chromosomal fragile sites have been correlated with the chromosomal deletions and gene rearrangements found in many cancers. (virginia.edu)

Unfortunately, the RED method cannot identify the specific repeat(s) responsible for these findings but it has recently been proposed that around 90% of the large CAG/CTG repeats detected by RED can be explained by repeat size at either CTG18.1, which maps to 18q21.1, or ERDA-1 (also known as Dir 1), which maps to 17q21.3. (cardiff.ac.uk)
Thus we conclude that in our sample, the previous RED associations are not a result of large CAG/CTG repeats at CTG18.1 or ERDA-1. (cardiff.ac.uk)
Among the various genetic variants associated with disease, the strongest association identified has been with expansion of the CTG18.1 trinucleotide repeat in TCF4 . (eyewiki.org)

One region of the DMPK gene contains a segment of three DNA building blocks (nucleotides) that is repeated multiple times. (encyclopedia.pub)
The mutated DMPK gene produces an altered version of messenger RNA, which is a molecular blueprint of the gene that is normally used to guide the production of proteins. (encyclopedia.pub)
As the altered DMPK gene is passed from one generation to the next, the size of the CTG repeat expansion often increases in size. (encyclopedia.pub)

A study in the British Medical Journal concluded that while there is a genetic basis for magical ability it involved the interaction of several genes, some recessive. (stackexchange.com)
Diversity and genetic stability in banana genotypes in a breeding program using inter simple sequence repeats (ISSR) markers. (geneticsmr.com)
For example, clinical signs may manifest more severely in some cases where both parents are affected [3] or if two separate genetic factors are present in an individual, [4] suggesting a role for interaction among genes. (eyewiki.org)
Autosomal Dominant Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)

Polymerase chain reaction (PCR) testing and size analysis for an expanded number of cytosine-adenine-guanine (CAG) trinucleotide repeats in the HTT gene may be performed for both symptomatic individuals and asymptomatic individuals with a family history of HD. (arupconsult.com)
This lends support to the "origin switch" model of slippage, in which DNA replication through the repeat region increases the formation of secondary structures - when a DNA strand binds to itself rather than the complimentary strand - thereby causing the DNA polymerase to slip and resulting in expansion of the CGG repeats. (ny.gov)
Polymerase chain reaction analysis is used as a first tier test to define the repeat size. (uab.edu)
Polymerase chain reaction analysis is used to further define the repeat number more precisely. (uab.edu)

SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. (wikipedia.org)
This expansion causes the features of some disorders to become more severe with each successive generation. (medlineplus.gov)

Risdiplam and Branaplam are oral medications which can cross the blood-brain barrier and increase the number of spinal muscular atrophy (SMA) full length proteins by targeting the SMN2 gene. (wjgnet.com)
Trainees in my laboratory will gain knowledge about chromatin biology, DNA repair, and cancer-causing gene rearrangements, and will develop expertise in cell culture, molecular biology techniques for proteins and nucleic acids, cytogenetic analysis, and electron microscopy. (virginia.edu)

35) in the first exon of the huntingtin ( HTT , IT15 ) gene 1 . (nature.com)
We modified BAC vectors carrying the whole FXN genomic DNA locus by inserting the luciferase gene in exon 5a of the FXN gene (pBAC-FXN-Luc) and replacing the six GAA repeats present in the vector with an ∼310 GAA repeat expansion (pBAC-FXN-GAA-Luc). (ox.ac.uk)
In a second familial ALS case, we identified a three-base pair deletion within exon 5 of the VAPB gene that deleted the serine residue at position 160 (Delta S160). (bvsalud.org)

Due to trinucleotide repeat expansions ranging from approximately 44-1700 "GAA" triplet sequences, affected individuals experience numerous characteristic signs and symptoms of Friedreich Ataxia. (wjgnet.com)
[1] Affected individuals have at least a 50% chance of passing the gene on to their children. (eyewiki.org)

It allows users to obtain, visualize and prioritize molecular interaction networks using HD-relevant gene expression, phenotypic and other types of data obtained from human samples or model organisms. (nature.com)
To relate full-length HD gene expression and differential polyglutamine expansion with possible pathophysiological changes in salient electrophysiological properties of neurons that may underlie early symptoms of HD, including mood and cognitive impairments, we have conducted whole-cell recordings from hippocampal area CA1 pyramidal cells in Hdh6/Q72 and Hdh4/Q80 knock-in mice. (nih.gov)
In PWS, the disease results due to loss of paternal gene expression. (wjgnet.com)
Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)
Friedreich's ataxia (FRDA) is caused by large GAA expansions in intron 1 of the frataxin gene (FXN), which lead to reduced FXN expression through a mechanism not fully understood. (ox.ac.uk)
We demonstrate that the presence of expanded GAA repeats recapitulates the epigenetic modifications and repression of gene expression seen in FRDA. (ox.ac.uk)
We applied the GAA-expanded reporter model to the screening of a library of novel small molecules and identified one molecule which up-regulates FXN expression in FRDA patient primary cells and restores normal histone acetylation around the GAA repeats. (ox.ac.uk)
These results suggest the potential use of genomic reporter cell models for the study of FRDA and the identification of novel therapies, combining physiologically relevant expression with the advantages of quantitative reporter gene expression. (ox.ac.uk)
or regulatory control sequences, to study effects of temporal changes to GENE EXPRESSION. (harvard.edu)
cSNP-analysis demonstrates monoallelic expression of the AFF3 gene in FRA2A carriers thus predicting that FRA2A expression results in functional haploinsufficiency for AFF3 at least in a subset of tissues. (edu.au)
If expression of a trait requires only one copy of a gene (one allele). (msdmanuals.com)

This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. (nih.gov)

A trinucleotide repeat is a sequence of three DNA building blocks (nucleotides) that is repeated a number of times in a row. (medlineplus.gov)

Our study demonstrates that a certain trinucleotide repeat influences normal brain structure in humans. (uni-muenchen.de)

If the number of repeats increases, it is known as a trinucleotide repeat expansion. (medlineplus.gov)
People with 35 to 49 CTG repeats do not develop myotonic dystrophy type 1, but their children are at risk of having the disorder if the number of CTG repeats increases. (encyclopedia.pub)

the detection of various repeats within these diseases demonstrated this relationship. (wikipedia.org)
The large number of genes and the diversity of processes involved in the progression of neurological diseases in general, and HD in specific, emphasizes the need for comprehensive approaches in additional to studies of individual genes 14 . (nature.com)
Today I'm going to tell you about microsatellites, and trinucleotide repeat expansions diseases. (hstalks.com)
We are also interested in the nature of trinucleotide repeat expansion diseases, in which an expanded trinucleotide repeat block is present in a gene for which loss or alteration leads to the disease. (virginia.edu)
Our effort is to examine the role of chromatin structure in the pathology of these diseases, and to investigate the role of DNA structure in the mechanism of the repeat expansion. (virginia.edu)

Other proposed mechanisms for expansion and reduction involve the interaction of RNA and DNA molecules. (wikipedia.org)
After the breakthroughs, the four mechanisms for TNRs were determined, and more types of repeats were identified as well. (wikipedia.org)

most involve unidentified genes. (bvsalud.org)

The size of the trinucleotide repeat expansion is associated with the severity of signs and symptoms. (encyclopedia.pub)

Several groups have reported association between large CAG/CTG repeat sequences in the genome and bipolar disorder using the Repeat Expansion Detection (RED) method. (cardiff.ac.uk)

If a Squib were indistinguishable from a Muggle, you may have been correct in it being a single gene, but given the differences I don't think a single gene can explain everything. (stackexchange.com)

This gene is broadly expressed, and may play an important role in nervous system development. (nih.gov)

Triplet expansion is caused by slippage during DNA replication, also known as "copy choice" DNA replication. (wikipedia.org)
In addition to occurring during DNA replication, trinucleotide repeat expansion can also occur during DNA repair. (wikipedia.org)

Each of these processes involves a DNA synthesis step in which strand slippage might occur leading to trinucleotide repeat expansion. (wikipedia.org)

Detection of TNRs was made difficult by limited technology and methods early on, and years passed before the development of sufficient ways to measure the repeats. (wikipedia.org)

In addition, a CAG expansion was located in X-linked spinal and bulbar muscular atrophy (SBMA) sequences. (wikipedia.org)

When a DNA trinucleotide repeat sequence is damaged, it may be repaired by processes such as homologous recombination, non-homologous end joining, mismatch repair or base excision repair. (wikipedia.org)
Onwards from 1995, it was also possible to observe the formation of hairpins in triplet repeats, which consisted of repeating CG pairs and a mismatch. (wikipedia.org)

4 months) HD mice harbouring an expanded CAG repeat stretch and age-matched wild type (WT) mice revealed no significant differences in any of the active or passive membrane properties investigated. (nih.gov)
18 months) HD mice and WT controls, despite modest levels of repeat length variability demonstrated by single cell PCR. (nih.gov)
Figure 1: Typical GeneScan traces for sizing of the CAG repeat from heart and striatal tissue of Msh2 -/- and Msh2 +/+ mice. (nature.com)
Figure 2: Distribution of CAG repeats before and after the major GeneScan peak for various tissues from Msh2 -/- and Msh2 +/+ mice. (nature.com)

Repeat lengths from 35 to 49 are called premutations. (encyclopedia.pub)

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. (nature.com)
We identified a polymorphic CGG repeat in a conserved, brain-active alternative promoter of the AFF3 gene, an autosomal homolog of the X-linked AFF2/FMR2 gene: Expansion of the AFF2 CGG repeat causes FRAXE ID. (edu.au)

Huntington disease (HD) is caused by an expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats within the HTT gene. (arupconsult.com)

Clonal expansion of macrolide resistance occurred mostly within subtype 1 strains, of which clade T1-2 showed the highest recombination rate and genome diversity. (cdc.gov)

Anatomy1

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Phenomena and Processes27

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Unstable3

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