Cloning and expression of the rat atrophin-I (DRPLA disease gene) homologue

Scott J. Loev; Russell L. Margolis; W.Scott Young; Shi-Hua Li; Gabriele Schilling; Roxann G. Ashworth; Christopher A. Ross

Neurobiology of Disease (Jun 1995)

Cloning and expression of the rat atrophin-I (DRPLA disease gene) homologue

Scott J. Loev,
Russell L. Margolis,
W.Scott Young,
Shi-Hua Li,
Gabriele Schilling,
Roxann G. Ashworth,
Christopher A. Ross

Affiliations

Scott J. Loev: Laboratory of Molecular Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Cell Biology, National Institute of Mental Health, Bethesda, U.S.A.; Laboratory of Molecular Neurobiology, Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.
Russell L. Margolis: Laboratory of Molecular Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Cell Biology, National Institute of Mental Health, Bethesda, U.S.A.; Laboratory of Molecular Neurobiology, Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.
W.Scott Young: Laboratory of Molecular Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Cell Biology, National Institute of Mental Health, Bethesda, U.S.A.; Laboratory of Molecular Neurobiology, Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.
Shi-Hua Li: Laboratory of Molecular Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Cell Biology, National Institute of Mental Health, Bethesda, U.S.A.; Laboratory of Molecular Neurobiology, Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.
Gabriele Schilling: Laboratory of Molecular Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Cell Biology, National Institute of Mental Health, Bethesda, U.S.A.; Laboratory of Molecular Neurobiology, Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.
Roxann G. Ashworth: Laboratory of Molecular Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Cell Biology, National Institute of Mental Health, Bethesda, U.S.A.; Laboratory of Molecular Neurobiology, Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.
Christopher A. Ross: Laboratory of Molecular Neurobiology, Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Cell Biology, National Institute of Mental Health, Bethesda, U.S.A.; Laboratory of Molecular Neurobiology, Department of Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, U.S.A.; Laboratory of Molecular Neurobiology, Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, U.S.A.

Journal volume & issue: Vol. 2, no. 3
pp. 129 – 138

Abstract

Read online

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare, progressive, fatal neuropsychiatric disorder similar to Huntington's disease, caused by an expansion of a CAG trinucleotide repeat encoding glutamine. We have cloned the cDNA of the rat homologue of this gene. The cDNA contains a 3549 base pair open reading frame that is 88.2% identical to the human cDNA, with a predicted amino acid sequence that is 93.6% identical to the human sequence. The consecutive glutamine repeat is only five residues in length (normal range in human: 7–35 glutamines) and is followed by a polymorphic region of alternating glutamine and proline residues (QQQQQPQPQPQPQQ). The sequence also includes a polymorphic proline repeat, a serine repeat, and a region of alternating acidic and basic residues. Northern analysis andin situhybridization indicate that the gene is widely expressed as a 4.5 kb mRNA, with a neuronal distribution in the brain. The widespread expression of this gene is consistent with the possibility that DRPLA, like other glutamine repeat diseases, is a result of an abnormality at the protein level.

Published in Neurobiology of Disease

ISSN: 0969-9961 (Print); 1095-953X (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry
Website: https://www.journals.elsevier.com/neurobiology-of-disease

About the journal

Abstract

Keywords