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
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 r...
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1996
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fthighwire:oai:open-archive.highwire.org:hmg:5/2/207 2023-05-15T16:30:16+02:00 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 Limprasert, Pornprot Nouri, Nassim Heyman, Rock A. Nopparatana, Chamnong Kamonsilp, Mahatana Deininger, Prescott L. Keats, Bronya J. B. 1996-02-01 00:00:00.0 text/html http://hmg.oxfordjournals.org/cgi/content/short/5/2/207 https://doi.org/10.1093/hmg/5.2.207 en eng Oxford University Press http://hmg.oxfordjournals.org/cgi/content/short/5/2/207 http://dx.doi.org/10.1093/hmg/5.2.207 Copyright (C) 1996, Oxford University Press Articles TEXT 1996 fthighwire https://doi.org/10.1093/hmg/5.2.207 2018-04-07T06:30:22Z 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 [<cross-ref type="bib" refid="ref16">Kawaguchi et al. (1994)</cross-ref> 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 nu-cleotide 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. Text Greenland inuit HighWire Press (Stanford University) Greenland Triplets ENVELOPE(-59.750,-59.750,-62.383,-62.383) Human Molecular Genetics 5 2 207 213 |
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Articles Limprasert, Pornprot Nouri, Nassim Heyman, Rock A. Nopparatana, Chamnong Kamonsilp, Mahatana Deininger, Prescott L. Keats, Bronya J. B. 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 |
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Articles |
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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 [<cross-ref type="bib" refid="ref16">Kawaguchi et al. (1994)</cross-ref> 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 nu-cleotide 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. |
format |
Text |
author |
Limprasert, Pornprot Nouri, Nassim Heyman, Rock A. Nopparatana, Chamnong Kamonsilp, Mahatana Deininger, Prescott L. Keats, Bronya J. B. |
author_facet |
Limprasert, Pornprot Nouri, Nassim Heyman, Rock A. Nopparatana, Chamnong Kamonsilp, Mahatana Deininger, Prescott L. Keats, Bronya J. B. |
author_sort |
Limprasert, Pornprot |
title |
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 |
title_short |
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 |
title_full |
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 |
title_fullStr |
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 |
title_full_unstemmed |
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 |
title_sort |
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 |
publisher |
Oxford University Press |
publishDate |
1996 |
url |
http://hmg.oxfordjournals.org/cgi/content/short/5/2/207 https://doi.org/10.1093/hmg/5.2.207 |
long_lat |
ENVELOPE(-59.750,-59.750,-62.383,-62.383) |
geographic |
Greenland Triplets |
geographic_facet |
Greenland Triplets |
genre |
Greenland inuit |
genre_facet |
Greenland inuit |
op_relation |
http://hmg.oxfordjournals.org/cgi/content/short/5/2/207 http://dx.doi.org/10.1093/hmg/5.2.207 |
op_rights |
Copyright (C) 1996, Oxford University Press |
op_doi |
https://doi.org/10.1093/hmg/5.2.207 |
container_title |
Human Molecular Genetics |
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5 |
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2 |
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207 |
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213 |
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1766019993679429632 |