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      Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

      Nature genetics

      genetics, Amino Acid Sequence, Spinocerebellar Degenerations, Sequence Homology, Amino Acid, Sequence Analysis, DNA, Proteins, Nerve Tissue Proteins, Molecular Sequence Data, Humans, Gene Expression Regulation, isolation & purification, DNA, Complementary, Chromosomes, Human, Pair 12, Chromosome Mapping, Base Sequence, Trinucleotide Repeats

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          Abstract

          The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24.1. A 1.1-megabase contig in the candidate region was assembled in P1 artificial chromosome and bacterial artificial chromosome clones. Using this contig, we identified a CAG trinucleotide repeat with CAA interruptions that was expanded in patients with SCA2. In contrast to other unstable trinucleotide repeats, this CAG repeat was not highly polymorphic in normal individuals. In SCA2 patients, the repeat was perfect and expanded to 36-52 repeats. The most common disease allele contained (CAG)37, one of the shortest expansions seen in a CAG expansion syndrome. The repeat occurs in the 5'-coding region of SCA2 which is a member of a novel gene family.

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          Most cited references 35

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

              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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                Author and article information

                Journal
                8896555
                10.1038/ng1196-269

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