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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Sequence variation and size ranges of CAG repeats in the machado-joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes
Human Molecular Genetics, Volume 4, No. 9, Year 1995
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Description
A subgroup of trinucleotide repeat diseases result from abnormal expansions of CAG repeats which are translated into polyglutamine stretches. As yet there is little understanding of how the polyglutamines function either normally, or when expanded. We have investigated these sequences in the Machado-Joseph disease, androgen receptor and spinocerebellar ataxia type 1 genes in humans and other primates. None of the 748 normal chromosomes that were examined had more than 34 uninterrupted gluta-mine codons in the Machado-Joseph disease gene. Similarly, no normal alleles with more than 39 uninterrupted glutamine codons have been reported for the other disease genes associated with polyglutamine expansions. Sequence analyses of the repeats in primates revealed shorter polyglutamine stretches in some of the non-human primates at all three loci and marked diversions from the expected polyglutamines in the orang-utan Machado-Joseph gene and in the marmoset spinocerebellar ataxia type 1 gene. These data suggest that conservation of these polyglutamine stretches may not always be necessary for normal gene function. © 1995 Oxford University Press.
Authors & Co-Authors
Rubinsztein, David Chaim
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
Leggo, Jayne
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
Coetzee, Gerhard A.
United States, Los Angeles
University of Southern California
Buckley, Michael Francis
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
Australia, Sydney
Prince of Wales Hospital
Ferguson-Smith, Malcolm Andrew
United Kingdom, Cambridge
Cambridge University Hospitals Nhs Foundation Trust
United Kingdom, Cambridge
University of Cambridge
Statistics
Citations: 48
Authors: 5
Affiliations: 4
Identifiers
Doi:
10.1093/hmg/4.9.1585
ISSN:
09646906
Research Areas
Genetics And Genomics