caa a22 4500 397575343 CHVBK 20180308164854.0 cr unu---uuuuu 161202e199602 xx s 000 0 eng 10.1093/hmg/5.2.207 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.2.207 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 [Elektronische Daten] [Pornprot Limprasert, Nassim Nouri, Rock A. Heyman, Chamnong Nopparatana, Mahatana Kamonsilp, Prescott L. Deininger, Bronya J. B. Keats] 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 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. © 1996 Oxford University Press Limprasert Pornprot Department of Biometry and Genetics, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut Nouri Nassim Department of Biometry and Genetics, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut Heyman Rock A. Department of Neurology, Pittsburgh University School of Medicine, 325 Scaife Hall, Pittsburgh, PA 15261, USA aut Nopparatana Chamnong Department of Pathology, Faculty of Medicine, Prince of Songkla University, Had Yai, Songkla 90112, Thailand aut Kamonsilp Mahatana Department of Pathology, Phamongkutklao Hospital, Bangkok 10400, Thailand aut Deininger Prescott L. Department of Biochemistry and Molecular Biology, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut Keats Bronya J. B. Department of Biometry and Genetics, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut Human Molecular Genetics Oxford University Press 5/2(1996-02), 207-213 0964-6906 5:2<207 1996 5 hmg https://doi.org/10.1093/hmg/5.2.207 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.2.207 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Limprasert Pornprot Department of Biometry and Genetics, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut NATIONALLICENCE 700 1- Nouri Nassim Department of Biometry and Genetics, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut NATIONALLICENCE 700 1- Heyman Rock A. Department of Neurology, Pittsburgh University School of Medicine, 325 Scaife Hall, Pittsburgh, PA 15261, USA aut NATIONALLICENCE 700 1- Nopparatana Chamnong Department of Pathology, Faculty of Medicine, Prince of Songkla University, Had Yai, Songkla 90112, Thailand aut NATIONALLICENCE 700 1- Kamonsilp Mahatana Department of Pathology, Phamongkutklao Hospital, Bangkok 10400, Thailand aut NATIONALLICENCE 700 1- Deininger Prescott L. Department of Biochemistry and Molecular Biology, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut NATIONALLICENCE 700 1- Keats Bronya J. B. Department of Biometry and Genetics, Louisiana State University Medical Center, 1901 Perdido Street, New Orleans, Louisiana 70112, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/2(1996-02), 207-213 0964-6906 5:2<207 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford