Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-09

AUTHORS

Gilles David, Nacer Abbas, Giovanni Stevanin, Alexandra Dürr, Gaël Yvert, Géraldine Cancel, Chantal Weber, Georges Imbert, Frédéric Saudou, Eric Antoniou, Harry Drabkin, Robert Gemmill, Paola Giunti, Ali Benomar, Nick Wood, Merle Ruberg, Yves Agid, Jean-Louis Mandel, Alexis Brice

ABSTRACT

The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12–13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina. More... »

PAGES

65-70

References to SciGraph publications

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    1

    VOLUME

    17

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0997-65

    DOI

    http://dx.doi.org/10.1038/ng0997-65

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1007196047

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/9288099


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