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ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1


, : ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1. Neurogenetics 3(4): 207-213

We searched for novel genes as candidates of X-linked dystonia parkinsonism (XDP) in the critical interval of Xq13.1 that harbors the disease locus (DYT3). A gene, ACRC (acidic repeat containing), was discovered by a combination of in silico and "wet" experiments. ACRC is composed of at least 12 exons and 11 introns. It is expressed in all tissues tested, including skeletal muscle, liver, kidney, pancreas, heart, lung, and brain. Highest levels of expression are found in skeletal muscle. The ACRC protein is characterized by a previously undescribed acidic repeat tract of 21 units of 8-10 amino acids. The N-terminal portion of the protein is highly acidic (pI=3.2), and the C-terminal region is basic (pI=10.2). There are nuclear localization signals in its C-terminal portion. Extensive mutation analysis of the transcribed region of the gene, including intron-exon boundaries and the 5' and 3' untranslated intervals, did not reveal a mutation in XDP patients. Exclusion of a mutation in the transcribed portion of this and all other known genes within the DYT3 critical interval suggests that XDP is most likely caused by a mutation in a regulatory region of a gene within the critical interval, or by a structural rearrangement.

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PMID: 11714101


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Donnelly, M.T.; Richardson, P.; Hawkey, C.J.; Courtauld, E.; Stack, W.A., 2000: Dose-dependent effects of ketoprofen on the human gastric mucosa in comparison with ibuprofen. Background: As non-steroidal anti-inflammatory drugs (NSAIDs) become available for over-the-counter use, it is important to define doses that would not cause undue gastroduodenal damage during the short periods for which self-medication with NSAID...

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Hashizume T.; Itoh M.; Haryu T.; Tanabe S., 1967: Studies on the utilization of fattening ration by japanese black breed cow iii effects of physical forms and cooking of barley m on the digestibility rumen contents and volatile fatty acids in the rumen. Bulletin of the National Institute of Animal Industry (Chiba) (15): 53-60

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Loudon, R.G.; Bumgarner, L.R.; Lacy, J.; Coffman, G.K., 1969: Aerial transmission of mycobacteria. American Review of Respiratory Disease 100(2): 165-171

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