This gene codes for the protein frataxin, a mitochondrial protein involved in iron homeostasis. The mutation impairs ... A trinucleotide repeat expansion, also known as a triplet repeat expansion, is the DNA mutation responsible for causing any ... of trinucleotide repeat expansion transmission in many predicted models due to the difficulty of Trinucleotide Repeat Expansion ... trinucleotide repeat expansion can also occur during DNA repair. When a DNA trinucleotide repeat sequence is damaged, it may be ...

... the unstable trinucleotide repeat may cause defects in a protein encoded by a gene; change the regulation of gene expression; ... The majority of diseases caused by expansions of simple DNA repeats involve trinucleotide repeats, but tetra-, penta- and ... has trinucleotide repeats that occur in the exons of the affected genes. Some of the problems in trinucleotide repeat syndromes ... the repeats are found in different, unrelated genes. Except for the CAG repeat expansion in the 5' UTR of PPP2R2B in SCA12, the ...

SBMA is caused by a trinucleotide repeat expansion in the first exon of the androgen receptor (AR) gene. The AR gene, located ... The repeat expansion likely causes a toxic gain of function in the receptor protein, since loss of receptor function in ... Diagnosis of SBMA is established by genetic testing that identifies a CAG trinucleotide repeat expansion in the AR gene. If ... CAG repeat in the AR gene of the X chromosome. If the person with the mutant AR gene is a father, he cannot pass the gene on to ...

SCA1 is a trinucleotide repeat disorder caused by expansion of the CAG repeat in ATXN1; this leads to an expanded polyglutamine ... "Entrez Gene: ATXN1 ataxin 1". "Atx-1 - Ataxin 1 - Drosophila melanogaster (Fruit fly) - Atx-1 gene & protein". www.uniprot.org ... "Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1". Nature Genetics. 4 (3): 221-6. doi:10.1038 ... 6-38 uninterrupted CAG repeats in healthy humans versus 2 in the mouse gene). This repeat is prone to errors in DNA replication ...

96% of FRDA patients have a GAA trinucleotide repeat expansion in intron 1 of both alleles of their FXN gene. Overall, this ... expansion of an intronic GAA triplet repeat in the FXN gene, which encodes the protein frataxin.). Reduced expression of ... The expansion of intronic trinucleotide repeat GAA results in Friedreich's ataxia. This expanded repeat causes R-loop formation ... Frataxin is a protein that in humans is encoded by the FXN gene. It is located in the mitochondrion and Frataxin mRNA is mostly ...

... the mutant FXN gene has 90-1,300 GAA trinucleotide repeat expansions in intron 1 of both alleles. This expansion causes ... The condition is caused by mutations in the FXN gene on chromosome 9, which makes a protein called frataxin. In FRDA, cells ... FRDA was first linked to a GAA repeat expansion on chromosome 9 in 1996. Currently there is no cure for Friedreich's ataxia, ... FRDA is an autosomal-recessive disorder that affects a gene (FXN) on chromosome 9, which produces an important protein called ...

... it does not itself appear to be protein coding. A cytidine, thymidine, guanosine (CTG) trinucleotide repeat expansion that is ... "Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish ... Presumably the expansion interferes with normal antisense function of this transcript. RAN translation Trinucleotide repeat ... expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease". Clinical Genetics. 65 ( ...

... disorder which is due to the expansion of repeated trinucleotide sequence CAG in exon 1 of the huntingtin gene (HTT). This gene ... This gene produces the RNA-binding protein FMRP. In the case of Fragile X syndrome the repeated sequence makes the gene ... These trinucleotide repeat expansions may occur through strand slippage during DNA replication or during DNA repair synthesis. ... Trinucleotide repeat expansions in the germline over successive generations can lead to increasingly severe manifestations of ...

Trinucleotide repeat expansion occurring in a parental germline cell can lead to children that are more affected or display an ... When the gene is translated into a protein, each of these triplets gives rise to a glutamine unit, resulting in a polyglutamine ... Trinucleotide repeat expansion is considered to be a consequence of slipped strand mispairing either during DNA replication or ... In general, several neurodegenerative disorders were found to involve nucleotide repeat expansions in protein coding sequences ...

FA is an autosomal recessive disorder caused by pathological GAA trinucleotide repeat expansions in the FXN gene. The encoded ... Mitochondria, however, depend on other proteins that are encoded by nuclear genes, constructed in the cytoplasm and then ... Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion". Science. 271 (5254): 1423-7. Bibcode:1996Sci ... DOA is an autosomal dominant disease caused by a defect in the nuclear gene OPA1. A slowly progressive optic neuropathy, ...

146,738,156 Almost all cases of fragile X syndrome are caused by expansion of the CGG trinucleotide repeat in the FMR1 gene. In ... As a result, this part of the FMR1 gene is methylated, which silences the gene (it is turned off and does not make any protein ... This is an example of a Trinucleotide repeat disorder. Trinucleotide repeat expansion is likely a consequence of strand ... The FMR1 gene is located on the X chromosome and contains a repeated CGG trinucleotide. In most people, the CGG segment is ...

... trinucleotide expansion in the SCA3 gene), myotonic dystrophy ( trinucleotide expansion in the DMPK gene), and Friedreich's ... Simple repetitive DNA sequences containing a variety of adjacent short tandem repeats are commonly observed in non-protein ... trinucleotide expansion in the AR gene), dentatorubral-pallidoluysian atrophy ( trinucleotide expansion in the DRPLA gene), ... Although trinucleotide contraction is possible, trinucleotide expansion occurs more frequently. Tandem repeats (the main ...

It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region ... Mab-21 like 1 is a protein that in humans is encoded by the MAB21L1 gene. This gene is similar to the MAB-21 cell fate- ... "Entrez Gene: Mab-21 like 1". Retrieved 2020-04-12. Meira-Lima IV, Zhao J, Sham P, Pereira AC, Krieger JE, Vallada H (September ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, Wikipedia articles ...

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 ... This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required ... Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in ... "Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1". Brais B (January 2009). "Oculopharyngeal muscular dystrophy: a ...

... known as a trinucleotide repeat expansion) in the gene coding for the huntingtin protein results in an abnormal mutant protein ... Part of this gene is a repeated section called a trinucleotide repeat expansion - a short repeat, which varies in length ... The huntingtin gene provides the genetic information for huntingtin protein (Htt). Expansion of CAG repeats of cytosine-adenine ... HD is one of several trinucleotide repeat disorders that are caused by the length of a repeated section of a gene exceeding a ...

The trinucleotide repeat expansion of the polyglutamine tract of the AR gene that is associated with SBMA results in the ... is a protein encoded by a gene located on the proximal long arm of the X chromosome (locus Xq11-Xq12). The protein coding ... "Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene". Lancet. 354 (9179): 640-3. ... n trinucleotide repeat of the human androgen receptor gene". Hum. Genet. 101 (1): 43-6. doi:10.1007/s004390050583. PMID 9385367 ...

The cloning of this locus also uncovered, for the first time, a trinucleotide repeat expansion mutation, a mechanism now known ... He has shown that this protein is a selective RNA-binding protein and identified FMRP associated mRNAs. Subsequent research in ... Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length ... "identification of triplet repeat expansion as the cause of fragile X syndrome and as an entirely new inherited mechanism of ...

"Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12". Nat Genet. 23 (4): 391-2. ... "Entrez Gene: PPP2R2B protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform". Millward TA, Zolnierowicz S, ... The product of this gene belongs to the phosphatase 2regulatory subunit B family. Protein phosphatase 2 is one of the four ... This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in the 5' UTR of this gene may cause a rare ...

... trinucleotide repeats in the ATXN3 gene that results in an abnormal form of the protein ataxin which causes degeneration of ... The symptoms are caused by a genetic mutation that results in an expansion of abnormal "CAG" ... In exon 10 the gene contains lengthy irregular CAG repeats, producing a mutated protein called ataxin-3. (Normally, the number ... Genetic testing looks at the number of CAG repeats within the coding region of the MJD/ATXN3 gene on chromosome 14. The test ...

When the trinucleotide repeat is present within the protein-coding region, the repeat expansion leads to production of a mutant ... When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found ( ... trinucleotide expansion is harmless,[citation needed] but in some areas expansion has detrimental effects that cause symptoms. ... Trinucleotide repeats are apparent in a number of loci in the human genome. They have been found in introns, exons and 5' or 3 ...

The JPH3 gene contains a CAG/CTG trinucleotide repeat segment. This segment's expansion is associated with several ... Junctophilin-3 is a protein in humans that is encoded by the JPH3 gene. The gene is approximately 97 kilobases long and is ... December 2001). "A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2". Nature ... The protein contains several MORN (membrane occupation and recognition nexus) repeats that contribute to plasma membrane ...

... triplet repeats, termed trinucleotide repeat expansion and classifying DM1 as a one of several trinucleotide repeat disorders. ... This expansion occurs in the first intron CNBP gene on chromosome 3. The repeat expansion for DM2 is much larger than for DM1, ... The repeat expansion produces an RNA transcript that binds to RNA-binding proteins such as MBNL1, as in DM1. Also, repeat ... Unlike DM1, anticipation does not result, as the degree of repeat expansion beyond 75 repeats does not affect the age of onset ...

The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to ... expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member". Cell. 68 (4 ... Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this ... As the DMPK repeat is replicated, the hairpin loop that is formed leads to repeat expansion (a) or contractions (b). Myotonic ...

They determined that the disease was caused by an expansion of the glutamine-encoding CAG trinucleotide repeat in this gene, ... In 1999, a postdoctoral researcher in Zoghbi's lab identified MECP2 as the causative gene. The MECP2 protein binds methylated ... "Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1". Nature Genetics. 4 (3): 221-226. doi: ... and proteasomal degradation of the protein product of this gene, Ataxin 1, played a role in the disorder. After solving the ...

1996). "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2". Nat. Genet. 14 (3): ... It is a protein that in humans is encoded by the ATXN2L gene. This gene encodes an ataxin type 2 related protein of unknown ... 1996). "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2". Nat. Genet. 14 (3): ... Figueroa KP, Pulst SM (Feb 2004). "Identification and expression of the gene for human ataxin-2-related protein on chromosome ...

Expansion of trinucleotide repeats also occurs in humans, in general leading to many diseases. Learning how D. discoideum cells ... It carries similar genes and pathways, making it a good candidate for gene knockout. The cell differentiation process occurs ... Detailed analysis of protein expression in Dictyostelium has been hampered by large shifts in the protein expression profile ... The repeats correspond to repeated sequences of amino acids and are thought to be expanded by nucleotide expansion. ...

... was a co-discoverer of the mutation that causes Fragile X syndrome as an expansion of a trinucleotide repeat in the FMR1 gene. ... "RNA-Binding Proteins hnRNP A2/B1 and CUGBP1 Suppress Fragile X CGG Premutation Repeat-Induced Neurodegeneration in a Drosophila ... and Erasmus University Rotterdam identified a massive expansion of CGG repeat (Trinucleotide repeat disorder) in FMR1. This was ... "Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length ...

... characterized by repeat expansion of the trinucleotide sequence CAG in DNA that encodes a polyglutamine repeat tract in protein ... The results from her most recent research "are supportive of clinical application of this gene therapy". Finally, another gene ... If the disease is caused by a polyglutamine trinucleotide repeat CAG expansion, a longer expansion may lead to an earlier onset ... contains a large number of repeats of glutamine residues, termed a polyQ sequence or a "CAG trinucleotide repeat" disease for ...

The gene contains a polymorphic CGG trinucleotide repeat in their DNA sequence; the repeat ranged from 6 to 54 in individuals ... There, she studied the trinucleotide repeat sequence expansions, the mutations responsible for the Fragile-X Syndrome, and ... One of these genes, cys-3, encodes a leucine zipper protein. It was hypothesized that leucine zippers were DNA-binding elements ... Macdonald, M (Mar 26, 1993). "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's ...

The expansion of the hexanucleotide repeats and thus accumulation of dipeptide repeat proteins are thought to cause cellular ... Gene expression, Protein complexes, RNA-binding proteins, Biochemistry, RNA, Proteins, Neurodegenerative disorders). ... Trinucleotide repeat disorder Eukaryotic translation C9orf72 Zu, T.; Gibbens, B.; Doty, N. S.; Gomes-Pereira, M.; Huguet, A.; ... variety of dipeptide repeat proteins by translation of expanded hexanucleotide repeats present in an intron of the C9orf72 gene ...