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

Anticipation typically occurs with disorders that are caused by an unusual type of variant (mutation) called a trinucleotide repeat expansion. (medlineplus.gov)
Trinucleotide repeat disorders, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they cause developmental, neurological or neuromuscular disorders. (wikipedia.org)
This tutorial looks at the mutation at the gene level and the harm it may bring. (biologyonline.com)
Cytogenetic expression results from CGG tri-nucleotide-repeat expansion mutation associated with local CpG hypermethylation and transcriptional silencing. (edu.au)
Also included are topics on DNA replication during interphase of the cell cycle, DNA mutation and repair mechanisms, gene pool, modification, and diseases. (biologyonline.com)
Fragile X syndrome is an X-linked condition and is caused by a mutation in a gene called FMR1 , which is located on the X chromosome. (sharinghealthygenes.com)
The mutation on the FMR1 gene is called a trinucleotide repeat expansion , which is a sequence of three DNA nucleotides that is repeated many times. (sharinghealthygenes.com)
In this way, some carriers of the FMR1 mutation can have no symptoms, but if the repeat size of their mutation increases to a critical point when passed to their child, then the child may be symptomatic. (sharinghealthygenes.com)
2005) identified a mutation in the APP gene (104760.0019). (findzebra.com)
This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)
Worldwide, approximately 20% of cases of familial ALS are due to a mutation in the Cu/Zn superoxide dismutase-1 gene ( SOD1 ). (medscape.com)
The huntingtin gene encodes a protein of 350 kD;the disease causing mutation is an expansion of an amino-terminal polyglutamine repeat of more than 36 successive glutamines. (grantome.com)
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)
Single-nucleotide polymorphism rs3849942 is associated with ALS, tagging a hexanucleotide repeat mutation in the C9orf72 gene. (ox.ac.uk)
These results indicate residual association at the C9orf72 locus suggesting a second disease-causing repeat mutation. (ox.ac.uk)
from the mutation of a single gene. (scirp.org)
A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. (cdc.gov)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)

The discovery that trinucleotide repeats could expand during intergenerational transmission and could cause disease was the first evidence that not all disease-causing mutations are stably transmitted from parent to offspring. (wikipedia.org)
Therefore, mutations in this gene lead to delayed developmental milestones, a moderately low IQ, and atypical behavior. (sharinghealthygenes.com)
In addition to this there are some types of SCAs caused by other DNA mutations with other trinucleotide repeat expansion nucleotide repeats in non-coding regions of appropriate genes or non-repeat mutations and deletions. (ampkpathway.com)
21 allelic mutations have been discovered in the APP gene. (findzebra.com)
Mutations in the C9orf72 gene are responsible for 30-40% of familial ALS cases in the United States and Europe. (medscape.com)
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)
Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
We estimate the average number of de novo genome-wide STR mutations per individual to be approximately 85, which is similar to the average number of observed de novo single nucleotide variants. (biomedcentral.com)
Mutations in the DMPK gene cause a form of myotonic dystrophy known as myotonic dystrophy type 1. (encyclopedia.pub)
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)
Genetic disorders result from new or inherited gene mutations . (amboss.com)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)

Many regions of the genome (exons, introns, intergenic regions) normally contain trinucleotide sequences, or repeated sequences of one particular nucleotide, or sequences of 2, 4, 5 or 6 nucleotides. (wikipedia.org)
Short tandem repeats (STRs), also known as microsatellites, are repetitive DNA sequences consisting of 1-6-bp motifs present in a genome. (researchsquare.com)
Nanopore sequencing is an evolving third/fourth generation sequencing technology for direct detection of nucleotide sequences with kb or even Mb base pairs (7)(8) . (researchsquare.com)
The availability of the complete nucleotide sequences of several MTB genomes allows to use the comparative genomics as a tool to study the relationships of strains and differences in their evolutionary history including acquisition of drug-resistance. (ijpsr.com)
The analysis of the nucleotide sequences showed that the 77 accessions of A. thaliana were partitioned into two major differentiated haplotype classes (MDHCs). (biomedcentral.com)
Functionally active DNA sequences are genes having a role in making proteins. (geneticeducation.co.in)
As the technology evolves and test costs decline, whole genome sequencing (WGS), which can assess genetic sequences of nuclear and mitochondrial DNA and copy number variants (CNVs), or whole exome sequencing (WES), which can assess genetic sequences of the coding region of nuclear genes, but usually does not cover mitochondrial DNA and does not consistently identify CNVs, in combination with CMA, may become first-line testing for these conditions. (arupconsult.com)
Specific uORFs are known to control protein expression by tuning translation rates of downstream protein-coding sequences, and potential uORFs have been identified in ~50% of all human protein-coding genes 1 , 2 . (nature.com)
Here we use translated uORFs mapped through ribosome-profiling experiments and a deep catalog of human genetic variation to characterize patterns of selection acting on single nucleotide variants (SNVs) in uORF sequences. (nature.com)

Genotypic analysis showed that 51% of cases (97) compared to 5% of controls (9) were heterozygous or homozygous for the expanded repeat allele. (edu.au)
Because HD is an inherited disease, we expected that the mutant allele will differ from wild-type by at least a single nucleotide polymorphism, thereby offering a target for gene silencing by RNAi. (grantome.com)
The number of repeat units differs between individuals, resulting in highly complex allele polymorphisms. (researchsquare.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)
Those with a risk allele of rs903603 had an excess of apparent homozygosity for wild type repeat alleles, consistent with polymerase chain reaction failure of 1 allele because of massive repeat expansion. (ox.ac.uk)

The first trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. (wikipedia.org)
Patients carry from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome, while unaffected individuals have up to 50 repeats and carriers of the disease have 60 to 230 repeats. (wikipedia.org)
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)
The gene that causes fragile X syndrome helps in the development of neuronal synapses. (sharinghealthygenes.com)
TNRs exhibit dynamic expansion and contraction in a number of disease states, such as fragile X syndrome and Huntington's disease, with the number of repeats varying in both normal and afflicted individuals. (nature.com)
Almost all cases of fragile X syndrome are caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene. (medlineplus.gov)

The chromosomal instability resulting from this trinucleotide expansion presents clinically as intellectual disability, distinctive facial features, and macroorchidism in males. (wikipedia.org)
Genetically, HSPs are classified by the mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and are subdivided by chromosomal locus or causative gene. (medscape.com)
[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)
Chromosomal microarray (CMA, also referred to as cytogenomic single nucleotide polymorphism [SNP] microarray) is the recommended first-line test for DD/ID or ASD of unknown etiology. (arupconsult.com)

Trinucleotide repeats are a subset of a larger class of unstable microsatellite repeats that occur throughout all genomes. (wikipedia.org)
of tandem repeats within their genomes [6, 17]. (scirp.org)

During the past several years, hundreds of new variations in repetitive regions of DNA have been identified, leading researchers to believe that copy number variations (CNVs) are as important a component of genomic diversity as single nucleotide polymorphisms (SNPs). (nature.com)
Innovations include targeting mRNA alleles for RNAi, use of HD mouse models that express only human huntingtin genes, quantitative measurement of huntingtin allelic mRNA based on SNP heterozygosities, deep sequencing analysis to identify 3 UTR huntingtin mRNA regulation, and zinc finger nuclease strategy to eliminate huntingtin alleles at the genomic level. (grantome.com)

The HapMap Project notes that CNVs encompass more nucleotide content per genome than SNPs, underscoring CNVs' significance to genetic diversity. (nature.com)
Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the risk of FECD in some populations. (edu.au)
Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)

Huntington's disease (HD) is the most prevalent autosomal dominant, trinucleotide repeat neurodegenerative disease. (grantome.com)

A trinucleotide repeat is a sequence of three DNA building blocks (nucleotides) that is repeated a number of times in a row. (medlineplus.gov)
However, the frequency of occurrence of any one particular repeat sequence disorder varies greatly by ethnic group and geographic location. (wikipedia.org)
Sometimes, a person may have more than the usual number of copies of a repeat sequence associated with a gene, but not enough to alter the function of that gene. (wikipedia.org)
This CGG repeat segment is typically interrupted several times by a different three-base sequence, AGG. (medlineplus.gov)
Exome sequencing is a laboratory test designed to identify and analyze the sequence of all protein-coding nuclear genes in the genome. (nih.gov)
This sequence, which is written as CTG, is called a triplet or trinucleotide repeat. (encyclopedia.pub)
scolymus) has been used to catalog the genome's content of simple sequence repeat (SSR) markers. (researchgate.net)
Epigenetic regulation of gene expression encompasses mechanisms that allow regulating the expression of the genes without modification of the DNA sequence. (amboss.com)
The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)

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)

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)
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)
[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)
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)
The most prevalent genetic risk factor for Fuchs' dystrophy is the CTG18.1 trinucleotide repeat expansion in TCF4 . (eyewiki.org)
Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
The natural populations from China with specific genetic characteristics enriched the gene pools of global A. thaliana collections. (biomedcentral.com)
Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients. (cdc.gov)
C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing. (cdc.gov)

DNA segments with these repeats are called alleles. (sharinghealthygenes.com)
Large alleles are unstable, or "fragile," and so the number of repeats can change as the gene is passed from generation to generation. (sharinghealthygenes.com)
All homologous chromosome pairs contain two variant forms of the same gene , called " alleles ," which are passed down from parent to offspring. (amboss.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)

2006). Perhaps the best-defined and most widely known CNVs are the trinucleotide repeats (TNRs), which consist of three nucleotides repeating in tandem. (nature.com)
In 189 unrelated Australian cases with advanced late-onset FECD and 183 matched controls, the TGC repeat polymorphism located in intron 3 of TCF4 was genotyped using a short tandem repeat (STR) assay. (edu.au)
Short tandem repeats (STRs) are widely present in the human genome. (researchsquare.com)
Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)

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)
Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)

Using these variants, we map and validate gene-disease associations in two independent biobanks containing exome sequencing from 10,900 and 32,268 individuals, respectively, and elucidate their impact on protein expression in human cells. (nature.com)

The aim of this study was to determine whether TGC repeat polymorphism in TCF4 is associated with FECD in the Australian population. (edu.au)
Furthermore, the repeat expansion showed stronger association than the most significantly associated SNP, rs613872, in TCF4 , with the disease in the Australian cohort. (edu.au)
This is the first study to report association of the TGC trinucleotide repeat expansion in TCF4 with advanced FECD in the Australian population. (edu.au)
Note: TCF4 (Gene ID: 6925) and TCF7L2 (Gene ID: 6934) loci share the TCF4 symbol/alias in common. (nih.gov)
The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. (nih.gov)

The trinucleotide CAG codes for the amino acid glutamine and the expanded CAG repeats are translated into a series of uninterrupted glutamine residues (a polyglutamine tract). (ermateb.com)

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

The second DNA-triplet repeat disease, fragile X-E syndrome, was also identified on the X chromosome, but was found to be the result of an expanded CCG repeat. (wikipedia.org)
Myotonic dystrophy is nucleotide repeat expansion disorder in which type 1 (DM1) is due to a trinucleotide repeat expansion on chromosome 19 and type 2 (DM2) arises from a tetranucleotide repeat expansion on chromosome 3. (jci.org)

Developing representative models of myotonic dystrophy in animals has been challenging due to instability of nucleotide repeat expansions, especially for DM2 which is characterized by nucleotide repeat expansions often greater than 5000 copies. (jci.org)

These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (researchsquare.com)
Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)

If the number of repeats increases, it is known as a trinucleotide repeat expansion. (medlineplus.gov)
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)
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)

DNA segments with an abnormal number of these repeats are unstable and prone to errors during cell division. (medlineplus.gov)
In these cases, CGG is abnormally repeated more than 200 times, which makes this region of the gene unstable. (medlineplus.gov)

The third main category of trinucleotide repeat disorders and related microsatellite disorders is due to the translation of repeat sequenced into pathogenic proteins containing a stretch of repeated amino acids. (wikipedia.org)
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)
Numerous cellular proteins detect DNA damage and induce senescence , a permanent change of state characterized by morphological and gene expression changes. (massgenomics.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)
50 repeat units and cause Fuchs endothelial corneal dystrophy. (nih.gov)

Evidence for DNA repair genes modifying Huntington's disease has been mounting for years. (ermateb.com)

A putative function has been assigned, using the gene ontology approach, to the set of genes harboring at least one SSR. (researchgate.net)
We identified a putative recombination block containing 6 genes (MPN366‒371). (cdc.gov)

In this second type of disorder, large repeat expansions in DNA are transcribed into pathogenic RNAs that form nuclear RNA foci. (wikipedia.org)

A total of 4,761 perfect and 6,583 imperfect SSRs were present in 3,781 genes (14.11% of the total), corresponding to an overall density across the gene space of 32,5 and 44,9 SSRs/Mbp for perfect and imperfect motifs, respectively. (researchgate.net)
Certain species-specific SSR motifs were identified, along with a hexa-nucleotide motif shared only with the other two Compositae species (sunflower (Helianthus annuus) and horseweed (Conyza canadensis)) included in the study. (researchgate.net)

Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)

Thousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. (biomedcentral.com)

Five hundred ninety-two nucleotides compared to 2453 for mRNA. (biomedcentral.com)

Defects in this gene are a cause of Pitt-Hopkins syndrome. (nih.gov)
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. (lookformedical.com)

DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. (encyclopedia.pub)
People with myotonic dystrophy type 1 have from 50 to 1,000 CTG repeats in most cells. (encyclopedia.pub)
People with the classic features of myotonic dystrophy type 1, including muscle weakness and wasting beginning in adulthood, usually have between 100 and 1,000 CTG repeats in their cells. (encyclopedia.pub)
People born with the more severe, congenital form of myotonic dystrophy type 1 tend to have more than 1,000 CTG repeats in their cells. (encyclopedia.pub)

We will examine how gene silencing can reduce production of the mutant huntingtin protein that causes HD, thereby preventing dysfunction and death in neurons in animal models of HD and in HD neurons in culture. (grantome.com)
The disease is caused by an increased CAG repeat number in a gene coding for a protein with an unknown function, called huntingtin. (ermateb.com)

This results in, variously, a toxic gain of function, a loss of function, a dominant negative effect and/or a mix of these mechanisms for the protein hosting the expansion. (wikipedia.org)
Translation of these repeat expansions occurs mostly through two mechanisms. (wikipedia.org)
This proposal satisfies NINDS goals in translational science: translation of gene silencing therapeutics, early-state therapy development, and identifying mechanisms that underlie nervous system function. (grantome.com)
This proposal addresses treatment of HD through study of basic mechanisms of silencing the gene that causes the disease. (grantome.com)
Our results suggest translation disrupting mechanisms relating uORF variation to reduced protein expression, and demonstrate that translation at uORFs is genetically constrained in 50% of human genes. (nature.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)
Forty-nine haplotypes were detected among the 77 accessions, which exhibited nucleotide diversity (π) of 0.00169. (biomedcentral.com)

Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)

Perfect repeats mutate about 2 × more often than imperfect repeats. (biomedcentral.com)

The classic view of information processing in the cell by gene expression occurs through transcription followed by translation. (nature.com)

Having AGG scattered among the CGG triplets appears to help stabilize the long repeated segment. (medlineplus.gov)
One region of the DMPK gene contains a segment of three DNA building blocks (nucleotides) that is repeated multiple times. (encyclopedia.pub)

These insertions, deletions, inversions, and duplications result in changes in the physical arrangement of genes on chromosomes. (nature.com)

We found that FRA2A-expressing individuals have mosaic expansions of the AFF3 CGG repeat in the range of several hundred repeat units. (edu.au)
Their length can vary from several hundred nucleotides for BC-200 to 90 thousands like in the case of Kcnqot1. (biomedcentral.com)

The first main category these authors discuss is repeat expansions located within the promoter region of a gene or located close to, but upstream of, a promoter region of a gene. (wikipedia.org)
Heat can affect their coming and going, and their presence near promoter elements can block gene activation. (anti-agingfirewalls.com)

This expansion causes the features of some disorders to become more severe with each successive generation. (medlineplus.gov)
Trinucleotide repeat disorders and the related microsatellite repeat disorders affect about 1 in 3,000 people worldwide. (wikipedia.org)
Three categories of trinucleotide repeat disorders and related microsatellite (4, 5, or 6 repeats) disorders are described by Boivin and Charlet-Berguerand. (wikipedia.org)
The second main category of trinucleotide repeat disorders and related microsatellite disorders involves a toxic RNA gain of function mechanism. (wikipedia.org)

The "prevailing dogma" here is that guanine nucleotides only form base pairs with cytosine nucleotides. (anti-agingfirewalls.com)

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)

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)
RNA-sequencing from DM1 and DM2 iPSC-derived cardiomyocytes revealed distinct misregulation of gene expression as well as differential aberrant splicing patterns. (jci.org)
We now know those structures are very relevant to many critical biological processes like gene regulation, expression of telomerase and telomere maintenance, understanding of growth/oncogenes like C-myc, understanding of organismic development, comprehension of certain enigmatic diseases like ALS and possible new cancer treatments. (anti-agingfirewalls.com)

It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat. (ox.ac.uk)

RI strains can therefore be exploited to expose gene-environment interactions. (nervenet.org)
In contrast, interactions between genes and the environment cannot usually be studied using conventional mapping populations in which each animal is unique. (nervenet.org)

In most people, the number of CGG repeats ranges from fewer than 10 to about 40. (medlineplus.gov)
In most people, the number of CTG repeats in this gene ranges from 5 to 34. (encyclopedia.pub)

Anatomy2

Organisms2

Diseases19

Chemicals and Drugs19

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Psychiatry and Psychology2

Phenomena and Processes32

Information Science3

Health Care1

Mutation19

Mutations14

Sequences9

Allele5

Fragile X syndro6

Chromosomal4

Genomes2

Genomic2

SNPs4

Neurodegenerative disease1

Sequence9

Autosomal1

Genetic10

Alleles4

Tandem4

FMR19

Variants1

TCF45

Polyglutamine1

Genetics1

Chromosome2

Instability1

Loci2

Increases3

Unstable2

Proteins3

Fuchs2

Huntington's1

Putative2

Disorder1

Motifs2

Candidate genes1

Human genome1

MRNA1

Defects2

Myotonic dystrophy4

Huntingtin2

Mechanisms5

Diversity2

Exome1

Imperfect1

Occurs1

Segment2

Chromosomes1

Several hundred2

Promoter2

Disorders4

Base pairs1

Single gene1

Expression3

Amino1

C9orf721

Interactions2

Ranges2