Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-03

AUTHORS

Y. Paul Goldberg, Johanna M. Rommens, Susan E. Andrew, Gordon B. Hutchinson, Biaoyang Lin, Jane Theilmann, Rona Graham, Martha L. Glaves, Elizabeth Starr, Helen McDonald, Jamal Nasir, Keith Schappert, Michael A. Kalchman, Lorne A. Clarke, Michael R. Hayden

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. More... »

PAGES

370-373

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/362370a0

DOI

http://dx.doi.org/10.1038/362370a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048249021

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8384324


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