In 1991, the cause of Kennedy’s disease was shown to be a CAG expansion in the androgen receptor (AR) gene [10]. Spinal and bulbar muscular atrophy (SBMA) is a slow progressive neuromuscular disorder in which the lower motor neurons and muscles degenerate. SBMA is X-linked and therefore mainly … See more In 1993, the cause of Huntington’s disease was found to be a CAG expansion in exon 1 of the huntingtin gene (HTT) [12]. The disease protein contains a polyglutamine expansion in the N … See more The genetic cause of Spinocerebellar ataxia type 1 (SCA1) was reported in 1993 [16]. SCA1 is an autosomal-dominant disorder … See more Friedreich ataxia (FRDA) serves as an exciting example of the rapid progress made in therapeutics. In FRDA, the GAA.TTC triplet repeat sequence results in transcriptional silencing of the frataxin gene [20]. Frataxin is … See more Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is caused by a polyQ expansion in the ataxin-3 protein [18]. Ataxin-3 is a ubiquitin ligase and Da Silva et al. present a unifying molecular … See more WebTrinucleotide repeat expansion has been discussed earlier. In the case of fragile X, the (CGG) n repeat is located in the 5′ UTR of the FMR1 gene, and its expansion to full …
Trinucleotide Repeat - HHMI BioInteractive
WebQuestion: write a summary for Diseases That Result from Expansion of Trinucleotide Repeats For decades, biologists believed that genes were always transmitted from generation to generation as stable entities. On rare occasion, a change occurs in the nucleotide sequence of a gene in the germ line, creating a mutation that is subsequently … WebSlipped strand mispairing is one explanation for the origin and evolution of repetitive DNA sequences. [1] It is a form of mutation that leads to either a trinucleotide or dinucleotide expansion, or sometimes contraction, during DNA replication. [2] A slippage event normally occurs when a sequence of repetitive nucleotides ( tandem repeats) are ... ticketek companion
Huntington disease: MedlinePlus Genetics
Web(50,209). The cause of polyQ diseases is the expansion of trinucleotide cytosine–adenine–guanine (CAG) repeats encoding a polyQ tract in the coding region of causative genes. During protein synthesis, the expanded CAG repeats are translated into a series of uninterrupted glutamine residues forming a polyQ tract, and the accumulation of WebThe expansion and contraction of CTG and CGG trinucleotide repeat sequences have been associated with several heritable genetic diseases. We developed a system for investigating the expansion of triplet repeat sequences in Escherichia coli in order to elucidate molecular mechanisms. Analysis of expanded regions using the interrupting … WebGM Williams, JA Surtees Genetics 200 (3), 737-754 July 1, 2015. Trinucleotide repeat (TNR) expansions are the underlying cause of … ticketek companion card