A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

Barron, Lilias; Warner, Jon; Porteous, Mary; Holloway, Susan; Simpson, Sheila A; Davidson, R.; Brock, D. J. H.

doi:10.1136/jmg.30.12.1003

Cited by 48 publications

(22 citation statements)

References 12 publications

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“…Our analyses of repeat-length changes in transmissions of the HD CAG repeat in the Venezuelan pedigree reveal an overall frequency of changes (74%) in this population, which fits well with the frequency of instability (70–83%) derived from transmission data in many other studies 4 7 10 25 26. Similar to other HD populations, this Venezuelan HD pedigree shows a tendency towards repeat expansion in paternal transmission, but no clear expansion trend in maternal transmission 4 7 10 25 26…”

Section: Discussionsupporting

confidence: 88%

Factors associated with HD CAG repeat instability in Huntington disease

Wheeler

Persichetti

McNeil

et al. 2007

Journal of Medical Genetics

115

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Section: Discussionsupporting

confidence: 88%

Factors associated with HD CAG repeat instability in Huntington disease

Wheeler

Persichetti

McNeil

et al. 2007

Journal of Medical Genetics

115

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“…Repeat expansions resulting in as few as 21 consecutive glutamines in the α 1A -voltage-dependent calcium channel causes SCA6, and 35 consectuvie glutamines in ataxin-2 causes SCA2 (Imbert et al 1996;Pulst et al 1996;Sanpei et al 1996). The minimal repeat length for disease onset is 35 or 36 glutamines in HD (Barron et al 1993) and 40 glutamines in SBMA (La Spada et al 1991) and SCA1 (Ranum et al 1995). Normal alleles with more than 35 or 36 residues have not been detected in DRPLA or MJD, though the minimum expansion associated with disease is 49 glutamines for DRPLA and 68 glutamines for MJD (Kawaguchi et al 1994;Koide et al 1994;Nagafuchi et al 1994).…”

Section: Discussionmentioning

confidence: 98%

cDNAs with long CAG trinucleotide repeats from human brain

et al. 1997

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Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat expansion mutations. Expansion mutations may also cause a number of other disorders, including several additional forms of spinocerebellar ataxia, bipolar affective disorder, schizophrenia, and autism. To obtain candiate genes for these disorders, cDNA libraries from adult and fetal human brain were screened at high stringency for clones containing CAG repeats. Nineteen cDNAs were isolated and mapped to chromosomes 1, 2, 4, 6, 7, 8, 9, 12, 16, 19, 20, and X. The clones contain between 4 and 17 consecutive CAG, CTG, TCG, or GCA triplets. Clone H44 encodes 40 consecutive glutamines, more than any other entry in the nonredundant GenBank protein database and well within the range that causes neuronal degeneration in several of the glutamine expansion diseases. Eight cDNAs encode 15 or more consecutive glutamine residues, suggesting that the gene products may function as transcription factors, with a potential role in the regulation of neurodevelopment or neuroplasticity. In particular, the conceptual translation of clone CTG3a contains 18 consecutive glutamines and is 45% identical to the C-terminal 306 residues of the mouse numb gene product. These genes are therefore candidates for diseases featuring anticipation, neurodegeneration, or abnormalities of neurodevelopment.

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“…Allele sizes ranging from (CAG) 6 -(CAG) 39 have been reported in the normal range and from (CAG) 35 -(CAG) 121 in the expanded range (Stine et al 1993; Barron et al 1993;Andrew et al 1993;Rubensztein et al 1996). The disease generally presents in midlife, although the age of onset can vary from early childhood to greater than seventy years.…”

Section: Introductionmentioning

confidence: 94%

Identification of an HD patient with a (CAG) 180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

et al. 1997

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The Huntington's disease mutation has been identified as a CAG/polyglutamine repeat expansion in a large gene of unknown function. In order to develop the transgenic systems necessary to uncover the molecular pathology of this disorder, it is necessary to be able to manipulate highly expanded CAG repeats in a cloned form. We have identified a patient with an expanded allele of greater than 170 repeat units and have cloned the mutant allele in the lambda zap vector. The recovery of highly expanded repeats after clone propagation was more efficient when repeats were maintained as lambda phage clones rather than as the plasmid counterparts. Manipulation of the repeats as phage clones has enabled us to generate Huntington's disease transgenic mice that contain highly expanded (CAG)115-(CAG)150 repeats and that develop a progressive neurological phenotype.

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A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

Cited by 48 publications

References 12 publications

Factors associated with HD CAG repeat instability in Huntington disease

Factors associated with HD CAG repeat instability in Huntington disease

cDNAs with long CAG trinucleotide repeats from human brain

Identification of an HD patient with a (CAG) 180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage

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