CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 View Full Text


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Article Info

DATE

1994-11

AUTHORS

Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki, Megumi Aizawa, Miho Inoue, Sadao Katayama, Hideshi Kawakami, Shigenobu Nakamura, Masaki Nishimura, Ichiro Akiguchi, Jun Kimura, Shuh Narumiya, Akira Kakizuka

ABSTRACT

We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of a family with the clinical and pathological diagnosis of MJD show expansion of the repeat-number (from 68–79). Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD. More... »

PAGES

221-228

References to SciGraph publications

  • 1992-02. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy in NATURE
  • 1991-07. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy in NATURE
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  • 1992-02. Cloning of the essential myotonic dystrophy region and mapping of the putative defect in NATURE
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  • 1993-07. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 in NATURE GENETICS
  • 1993-07. The gene for Machado–Joseph disease maps to human chromosome 14q in NATURE GENETICS
  • 1994-01. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p in NATURE GENETICS
  • 1993-08. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease in NATURE GENETICS
  • 1993-01. Structure and physical map of 64 variable segments in the 3′ 0.8–megabase region of the human immunoglobulin heavy–chain locus in NATURE GENETICS
  • 1993-11. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues in NATURE GENETICS
  • 1994-01. Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) in NATURE GENETICS
  • 1993-07. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1 in NATURE GENETICS
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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    3

    VOLUME

    8

    Clinical Trials linked to this publication

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng1194-221

    DOI

    http://dx.doi.org/10.1038/ng1194-221

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1036365552

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/7874163


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