ArticleNature1993
Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease.
Article in Nature, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Horizontal Gene Transfer: From Evolutionary Flexibility to Disease Progression.Frontiers in cell and developmental biology · 2020Review
- Comparative Genomics Reveals the High Copy Number Variation of a Retro Transposon in DifferentFrontiers in microbiology · 2019Article
- Huntington's Disease and Striatal Signaling.Frontiers in neuroanatomy · 2011Article
- Mutant huntingtin and mitochondrial dysfunction.Trends in neurosciences · 2008Review
- The role and amplification of the HS Alu subfamily founder gene.Journal of molecular evolution · 1996Article
- Mg-SINE: a short interspersed nuclear element from the rice blast fungus, Magnaporthe grisea.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.American journal of human genetics · 1995Article
- Gene conversion as a secondary mechanism of short interspersed element (SINE) evolution.Molecular and cellular biology · 1995Article
- A young Alu subfamily amplified independently in human and African great apes lineages.Nucleic acids research · 1994Article
- Evolution of secondary structure in the family of 7SL-like RNAs.Journal of molecular evolution · 1994Article
- Homologous recombination of monkey alpha-satellite repeats in an in vitro simian virus 40 replication system: possible association of recombination with DNA replication.Molecular and cellular biology · 1994Article
- Eukaryotic transcription termination factor La mediates transcript release and facilitates reinitiation by RNA polymerase III.Molecular and cellular biology · 1994Article
- Article
- An Alu element retroposition in two families with Huntington disease defines a new active Alu subfamily.Nucleic acids research · 1993Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Huntington's disease (HD) is a late-onset autosomal dominant neuropsychiatric disorder presenting in mid-adult life with personality disturbance and involuntary movements, cognitive and affective disturbance, and inexorable progression to death. The underlying genetic defect has been mapped to chromosomal band 4p16.3 (refs 2, 3). Analysis of specific recombination events in some families with HD has further refined the location of the HD defect to a 2.2 megabase DNA interval. Using a direct complementary DNA selection strategy we have identified at least seven transcriptional units within the minimal region believed to contain the HD gene. Screening with one of the cDNA clones identified an Alu insertion in genomic DNA from two persons with HD which showed complete cosegregation with the disease in these families but was not found in 1,000 control chromosomes. Two genes including the previously identified alpha-adducin gene and another that encodes for a 12-kilobase transcript, map in close proximity to the Alu insertion site. The 12-kilobase transcript should be regarded as a strong candidate for the HD gene.
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