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We report here the expression of mutant proteins displaying the + 1 reading frame of the vasopressin and oxytocin precursors in magnocellular neurons of the human hypothalamus. Our data demonstrate a high frequency of frameshift mutations in these neurons and thus provide the first evidence of somatic mutations in neurons of the human brain.The results imply that other neuronal populations and specific genes may also undergo similar mutational events with possible consequences for neuronal functioning and pathology.
Rudolf Magnus Institute for Neurosciences, Department of Medical Pharmacology, University of Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Graduate School Neurosciences Amsterdam, Netherlands Institute for Brain Research, Meibergdreef 33, 1105 AZ Amsterdam, The Netherlands
Rudolf Magnus Institute for Neurosciences, Department of Medical Pharmacology, University of Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands