Document Detail

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.
MedLine Citation:
PMID:  8824876     Owner:  NLM     Status:  MEDLINE    
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with an unstable and expanded CAG repeat. We analyzed this locus from various sources including MJD families, Acadian, African American, Caucasian, Greenland Inuit and Thai populations. The range of the CAG repeat size was 14-40 in the normal alleles while the MJD alleles contained 73-78 repeats in our studies. We found 25 different alleles on normal chromosomes with a heterozygosity of 0.86 in combined populations. The most common alleles were 23 (22.9%) and 14 (25.5%) repeats. We also examined 16 chimpanzees and various Old World monkeys: a pigtail macaque, a mangabey and 12 rhesus macaques. The DNA sequences surrounding the CAG repeat did not vary among species. The range of the number of the CAG repeats is 13-14 in macaques, 16 in mangabey and 14-20 in chimpanzees. Variant CAA or AAG triplets in the CAG repeat tracts were found in all 268 human, 28 monkey and 32 chimpanzee chromosomes. As reported in a previous study [Kawaguchi et al. (1994) Nature Genet. 8, 221-228] the common variant positions were the third (CAA), fourth (AAG) and sixth (CAA) positions. However, we found three human chromosomes containing CAG at the sixth position and the mangabey had AAG at the ninth position. In addition, we found CAG at the fourth position and AAG at the sixth position in all macaque chromosomes. The nucleotide following the CAG repeat tract was usually G in all species studied. However, we sometimes found C at this position in human and chimpanzee chromosomes. Interestingly, this variant C was found in all expanded chromosomes and in 54.5% of chromosomes with 27-40 CAG repeats but it was not found in any chromosomes with less than 20 CAG repeats. We hypothesize that the variant C may be associated with CAG repeat instability.
P Limprasert; N Nouri; R A Heyman; C Nopparatana; M Kamonsilp; P L Deininger; B J Keats
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human molecular genetics     Volume:  5     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1996 Feb 
Date Detail:
Created Date:  1996-12-05     Completed Date:  1996-12-05     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  207-13     Citation Subset:  IM    
Department of Biometry and Genetics, Louisana State University Medical Center, New Orleans 70112, USA.
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MeSH Terms
Base Sequence
Chromosome Aberrations
Chromosome Disorders
Chromosome Mapping
DNA Primers
Gene Dosage*
Genes, Dominant
Genetic Variation
Macaca / genetics
Machado-Joseph Disease / genetics*
Molecular Sequence Data
Nerve Tissue Proteins*
Nuclear Proteins
Pan troglodytes / genetics
Proteins / genetics*
Repressor Proteins
Sequence Homology, Nucleic Acid
Spinocerebellar Degenerations / genetics
Trinucleotide Repeats*
Grant Support
Reg. No./Substance:
0/DNA Primers; 0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Nucleotides; 0/Proteins; 0/Repressor Proteins; EC 3.4.22.-/ATXN3 protein, human

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