An ∼140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival
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چکیده
John C. Fyfe, Marilyn Menotti-Raymond, Victor A. David, Lars Brichta, Alejandro A. Schäffer, Richa Agarwala, William J. Murphy, William J. Wedemeyer, Brittany L. Gregory, Bethany G. Buzzell, Meghan C. Drummond, Brunhilde Wirth, and Stephen J. O’Brien Laboratory of Comparative Medical Genetics, Department of Microbiology & Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing, Michigan 48824, USA; Laboratory of Genomic Diversity, National Cancer Institute–Frederick, Frederick, Maryland 21702, USA; Institute of Human Genetics, Institute of Genetics, and Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20894, USA; Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas 77843, USA; Department of Biochemistry & Molecular Biology, Michigan State University, East Lansing, Michigan 48824, USA
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Spinal muscular atrophy (SMA) is caused by deletion or specific mutations of the telomeric survival motor neuron ( SMN ) gene on human chromosome 5. The human SMN gene, in contrast to the Smn gene in mouse, is duplicated and the centromeric copy on chromosome 5 codes for transcripts which preferentially lead to C-terminally truncated SMN protein. Here we show that a 46% reduction of Smn protein...
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تاریخ انتشار 2006