TY - JOUR
T1 - cDNA cloning and characterization of an Atrophin-1 (DRPLA disease gene)-related protein
AU - Khan, Farhat A.
AU - Margolis, Russell L.
AU - Loev, Scott L.
AU - Sharp, Alan H.
AU - Li, Shi Hua
AU - Ross, Christopher A.
N1 - Funding Information:
We thank Ms. Roxann Ashworth, Mr. Duane Bartley, and Dr. Alan Scott for DNA sequencing, and Mr. Frederick Nucifora for technical assistance. This work was supported in part by NIMH MH15330 and the DeVelbiss fund for Alzheimer’s Research; a Johns Hopkins Clinician Scientist Award, a NARSAD Young Investigator Award, and an NIMH MH02175-10A1 to R.L.M.; a Stanley Foundation Award, a Scottish Rite Schizophrenia Foundation Award, a NARSAD Established Investigator Award, NIMH MH 50763, NINDS NS34172, and NINDS NS16375 to C.A.R.
PY - 1996/4
Y1 - 1996/4
N2 - Dentatorubral and pallidoluylsian atrophy (DRPLA) is a progressive neurological disorder characterized by neuronal degeneration, especially in the cerebellar dentate nucleus. DRPLA is caused by an unstable expansion of a CAG trinucleotide repeat coding for glutamine in a gene of unknown function, termed atrophin-1, located on chromosome 12. To gain additional understanding of atrophin-1, we have isolated a second member of the atrophin-1 gene family by screening rat cDNA libraries. The 1006-amino-acid product of this gene, which we have termed rat atrophin related protein(rARP), does not contain a glutamine repeat, but it does contain two regions of alternating acidic and basic amino residues similar to those found in atrophin-1. rARP is widely expressed as both a 7.4- and a 9.4-kb message, with enrichment in cerebellum and testis. Like atrophin-1, the rARP in vitro translation product migrates more slowly on SDS-polyacrylamide gel electrophoresis than predicted by molecular weight. We conclude that, at least in the rat, polyglutamine is not an essential feature of the atrophin family of genes.
AB - Dentatorubral and pallidoluylsian atrophy (DRPLA) is a progressive neurological disorder characterized by neuronal degeneration, especially in the cerebellar dentate nucleus. DRPLA is caused by an unstable expansion of a CAG trinucleotide repeat coding for glutamine in a gene of unknown function, termed atrophin-1, located on chromosome 12. To gain additional understanding of atrophin-1, we have isolated a second member of the atrophin-1 gene family by screening rat cDNA libraries. The 1006-amino-acid product of this gene, which we have termed rat atrophin related protein(rARP), does not contain a glutamine repeat, but it does contain two regions of alternating acidic and basic amino residues similar to those found in atrophin-1. rARP is widely expressed as both a 7.4- and a 9.4-kb message, with enrichment in cerebellum and testis. Like atrophin-1, the rARP in vitro translation product migrates more slowly on SDS-polyacrylamide gel electrophoresis than predicted by molecular weight. We conclude that, at least in the rat, polyglutamine is not an essential feature of the atrophin family of genes.
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U2 - 10.1006/nbdi.1996.0012
DO - 10.1006/nbdi.1996.0012
M3 - Article
C2 - 9173919
AN - SCOPUS:0030130502
SN - 0969-9961
VL - 3
SP - 121
EP - 128
JO - Neurobiology of Disease
JF - Neurobiology of Disease
IS - 2
ER -