Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes |
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| Authors: | Rubinsztein, David C. Leggo, Jayne Coetzee, Gerhard A. Irvine, Ryan A. Buckley, Michael Ferguson-Smith, Malcolm A. |
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| Affiliation: | 1East Anglian Regional Genetics Service Molecular Genetics Laboratory Box 158, Addenbrooke's NHS Trust, Hills Road, Cambridge, CB2 2QQ, UK 2Department of Urology and Norris Cancer Center, University of Southern California 1441 Eastlake Avenue, PO Box 33800, Los Angeles, CA 0933–0804, USA 3Cytogenetics and Cell Biology Unit, The Prince of Wales Hospital Randwick, NSW 2031, Australia 4Department of Pathology, Cambridge University, Tennis Court Road, Cambridge, CB2 1QP, UK |
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| Abstract: | A subgroup of trinucleotide repeat diseases result from abnormalexpansions of CAG repeats which are translated into polyglutaminestretches. As yet there is little understanding of how the polyglutaminesfunction either normally, or when expanded. We have investigatedthese sequences in the Machado-Joseph disease, androgen receptorand spinocerebellar ataxia type 1 genes in humans and otherprimates. None of the 748 normal chromosomes that were examinedhad more than 34 uninterrupted gluta-mine codons in the Machado-Josephdisease gene. Similarly, no normal alleles with more than 39uninterrupted glutamine codons have been reported for the otherdisease genes associated with polyglutamine expansions. Sequenceanalyses of the repeats in primates revealed shorter polyglutaminestretches in some of the non-human primates at all three lociand marked diversions from the expected polyglutamines in theorang-utan Machado-Joseph gene and in the marmoset spinocerebellarataxia type 1 gene. These data suggest that conservation ofthese polyglutamine stretches may not always be necessary fornormal gene function. |
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