The spinocerebellar ataxia type 2 (SCA2) gene has been localized to chromosome 12q24.1. To characterize this region and to aid in the identification of the SCA2 gene, we have constructed a 3.9-Mb physical map, which covers markers D12S1328 and D12S1329 known to flank the gene. The map comprises a contig of 84 overlapping yeast artificial chromosomes (YACs), P1 artificial chromosomes (PACs), and bacterial artificial chromosomes (BACs) onto which we placed 82 PCR markers. We localized eight genes and expressed sequence tags on this map, many of which had not been precisely mapped before. In contrast to YACs, which showed a high degree of chimerism and deletions in this region, PACs and BACs were stable. Only 1 in 65 PACs contained a small deletion, and 2 in 18 BACs were chimeric. The high-resolution physical map, which was used in the identification of the SCA2 gene, will be useful for the positional cloning of other disease genes mapped to this region.
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http://dx.doi.org/10.1006/geno.1997.4886 | DOI Listing |
Stem Cell Res Ther
November 2024
School of Life Science and Biotechnology, BK21 FOUR KNU Creative BioResearch Group, Kyungpook National University, Daegu, 41566, Korea.
Neurol Genet
December 2024
From the Neurology (A.M.B., L.M.J., R.G., J.M.M.-T., K.A.J., H.B.); Speech Pathology (G.M., J.S., J.R.D., H.C., R.L.U.); Psychology (M.M.M.); and Radiology (J.L.W.), Mayo Clinic, Rochester, MN.
Objectives: To describe a case of spinocerebellar ataxia presenting with progressive apraxia of speech (AOS).
Methods: A 54-year-old man with progressive speech changes was seen clinically and referred to our observational research program on degenerative speech and language disorders. He underwent detailed speech-language and neurologic assessments and multimodal neuroimaging studies.
Int J Mol Sci
September 2024
Centre for Genomics and Oncological Research (GENYO), Pfizer, University of Granada, Andalusian Regional Government, PTS, 18016 Granada, Spain.
This study aimed to elucidate the genetic causes underlying the juvenile parkinsonism (JP) diagnosed in a girl with several family members diagnosed with spinocerebellar ataxia type 2 (SCA2). To achieve this, whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification were performed. As a result, a homozygous missense mutation SNP T>C (rs2254562) in synaptojamin 1 (SYNJ1), which has been implicated in the regulation of membrane trafficking in the synaptic vesicles, was identified.
View Article and Find Full Text PDFParkinsonism Relat Disord
December 2024
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; College of Medicine, National Taiwan University, Taipei, Taiwan; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Biomedical Engineering, National Taiwan University, Taipei, Taiwan. Electronic address:
Discov Oncol
July 2024
Department of Pathophysiology, College of High Altitude Military Medicine, Army Medical University, Chongqing, 400038, China.
Ataxin-2 (ATXN2) was originally discovered in the context of spinocerebellar ataxia type 2 (SCA2), but it has become a key player in various neurodegenerative diseases. This review delves into the multifaceted roles of ATXN2 in human diseases, revealing its diverse molecular and cellular pathways. The impact of ATXN2 on diseases extends beyond functional outcomes; it mainly interacts with various RNA-binding proteins (RBPs) to regulate different stages of post-transcriptional gene expression in diseases.
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