ArticleJournal of medical genetics1997
Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 20 citations in OpenAlex.
- Transcriptional Regulation of the Huntingtin Gene.Journal of Huntington's disease · 2018Review
- A SNP in the HTT promoter alters NF-κB binding and is a bidirectional genetic modifier of Huntington disease.Nature neuroscience · 2015Article
- Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).Cerebellum (London, England) · 2012Article
- Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.Journal of human genetics · 2008Article
- An upstream open reading frame impedes translation of the huntingtin gene.Nucleic acids research · 2002Article
- Modeling Huntington's disease in cells, flies, and mice.Molecular neurobiology · 2001Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The CAG repeat number in the Huntington's disease (HD) gene accounts for about 50% of the variation seen in age at onset of HD. In order to determine whether promoter sequence variation can contribute to the residual variation in age at onset, we studied the conserved 303 bp region upstream of the +1 translation start site in the HD gene in a population of 56 control East Anglians, 30 Africans, 34 Japanese, and 208 English Huntington's disease patients. A surprisingly high degree of variation was found. Seven alleles were identified, comprising four polymorphisms: two single base pair substitutions, a 6 bp VNTR present as one or two copies, and a 20 bp VNTR with one to three copies of the tandem repeat. No correlation between polymorphisms and age at onset of symptoms was found in HD patients. The 6 bp and 20 bp stretches are present only in single copies in the chimpanzees and gorilla, suggesting that these VNTRs have evolved by duplication of the core sequences in the human lineage.
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What OpenQuestion holds
Registered trials
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