Showing papers by "Patrizia Rizzu published in 2018"
Brigham and Women's Hospital1, University of Birmingham2, Southeast University3, Harvard University4, Garvan Institute of Medical Research5, University of Sydney6, University of New South Wales7, German Center for Neurodegenerative Diseases8, Mayo Clinic9, University of Auckland10, University of Kentucky11, Banner Health12
TL;DR: This study shows that enhancers in dopamine neurons link genetic variation to neuropsychiatric traits, and expresses quantitative trait locus analysis revealed that Parkinson’s disease-associated variants on chromosome 17q21 cis-regulate the expression of an enhancer RNA in dopamine cells.
Abstract: Enhancers function as DNA logic gates and may control specialized functions of billions of neurons Here we show a tailored program of noncoding genome elements active in situ in physiologically distinct dopamine neurons of the human brain We found 71,022 transcribed noncoding elements, many of which were consistent with active enhancers and with regulatory mechanisms in zebrafish and mouse brains Genetic variants associated with schizophrenia, addiction, and Parkinson's disease were enriched in these elements Expression quantitative trait locus analysis revealed that Parkinson's disease-associated variants on chromosome 17q21 cis-regulate the expression of an enhancer RNA in dopamine neurons This study shows that enhancers in dopamine neurons link genetic variation to neuropsychiatric traits
78 citations
TL;DR: A wide genetic spectrum underlying clinical FTD is revealed, including 11% of seemingly sporadic FTD, which suggests thatclinical FTD might be the converging downstream result of a delicate susceptibility of frontotemporal brain networks to insults in various pathways.
64 citations