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

      Nature genetics

      Adult, Amino Acid Sequence, Base Sequence, Blotting, Southern, Chromosomes, Human, Pair 14, Cloning, Molecular, Female, Genes, Humans, In Situ Hybridization, Fluorescence, Machado-Joseph Disease, genetics, Male, Middle Aged, Minisatellite Repeats, Molecular Sequence Data, Multigene Family, Nerve Tissue Proteins, Nuclear Proteins, Pedigree, Proteins, Repressor Proteins

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          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.

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          Most cited references 33

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          A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

           M. MacDonald (1993)
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            Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

            X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen insensitivity. We have now investigated whether the androgen receptor gene on the proximal long arm of the X chromosome is a candidate gene for this disease. In patient samples we found androgen receptor gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region. These amplified repeats were absolutely associated with the disease, being present in 35 unrelated patients and none of 75 controls. They segregated with the disease in 15 families, with no recombination in 61 meioses (the maximum log likelihood ratio (lod score) is 13.2 at a recombination rate of 0). The association is unlikely to be due to linkage disequilibrium, because 11 different disease alleles were observed. We conclude that enlargement of the CAG repeat in the androgen receptor gene is probably the cause of this disorder.
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              Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

              Fragile X syndrome results from mutations in a (CGG)n repeat found in the coding sequence of the FMR-1 gene. Analysis of length variation in this region in normal individuals shows a range of allele sizes varying from a low of 6 to a high of 54 repeats. Premutations showing no phenotypic effect in fragile X families range in size from 52 to over 200 repeats. All alleles with greater than 52 repeats, including those identified in a normal family, are meiotically unstable with a mutation frequency of one, while 75 meioses of alleles of 46 repeats and below have shown no mutation. Premutation alleles are also mitotically unstable as mosaicism is observed. The risk of expansion during oogenesis to the full mutation associated with mental retardation increases with the number of repeats, and this variation in risk accounts for the Sherman paradox.
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                Author and article information

                Journal
                7874163
                10.1038/ng1194-221

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