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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2023,6,6]]},"abstract":"<jats:p>\n                    Short trinucleotide expansions at the FMR1 locus are associated with the late-onset condition fragile X-associated tremor\/ataxia syndrome (FXTAS), which shows very different clinical and pathological features from fragile X syndrome (associated with longer expansions), with no clear molecular explanation for these marked differences. One prevailing theory posits that the shorter, premutation expansion uniquely causes extreme neurotoxic increases in FMR1 mRNA (i.e., four to eightfold increases), but evidence to support this hypothesis is largely derived from analysis of peripheral blood. We applied single-nucleus RNA sequencing to postmortem frontal cortex and cerebellum from 7 individuals with premutation and matched controls (n = 6) to assess cell type\u2013specific molecular neuropathology. We found only modest upregulation (~1.3-fold) of FMR1 in some glial populations associated with premutation expansions. In premutation cases, we also identified decreased astrocyte proportions in the cortex. Differential expression and gene ontology analysis demonstrated altered neuroregulatory roles of glia. Using network analyses, we identified cell type\u2013specific and region-specific patterns of FMR1 protein target gene dysregulation unique to premutation cases, with notable network dysregulation in the cortical oligodendrocyte lineage. We used pseudotime trajectory analysis to determine how oligodendrocyte development was altered and identified differences in early gene expression in oligodendrocyte trajectories in premutation cases specifically, implicating early cortical glial developmental perturbations. These findings challenge dogma regarding extremely elevated\n                    <jats:italic>FMR1<\/jats:italic>\n                    increases in FXTAS and implicate glial dysregulation as a critical facet of premutation pathophysiology, representing potential unique therapeutic targets directly derived from the human condition.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2300052120","type":"journal-article","created":{"date-parts":[[2023,5,30]],"date-time":"2023-05-30T13:31:38Z","timestamp":1685453498000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":32,"title":["Glial dysregulation in the human brain in fragile X-associated tremor\/ataxia syndrome"],"prefix":"10.1073","volume":"120","author":[{"given":"Caroline M.","family":"Dias","sequence":"first","affiliation":[{"name":"Division of Developmental Medicine, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Department of Pediatrics, Harvard Medical School, Boston, MA 02115"},{"name":"Department of Pediatrics, Section of Developmental Pediatrics, Section of Genetics and Metabolism, and Denver Fragile X Clinic and Research Center, Children\u2019s Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biju","family":"Issac","sequence":"additional","affiliation":[{"name":"Research Computing, Department of Information Technology, Boston Children\u2019s Hospital, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang","family":"Sun","sequence":"additional","affiliation":[{"name":"Research Computing, Department of Information Technology, Boston Children\u2019s Hospital, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Lukowicz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Developmental Pediatrics, Section of Genetics and Metabolism, and Denver Fragile X Clinic and Research Center, Children\u2019s Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, CO 80045"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5997-5633","authenticated-orcid":false,"given":"Maya","family":"Talukdar","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Harvard-Massachusetts Institute of Technology MD\/PhD Program, Program in Bioinformatics &amp; Integrative Genomics, Harvard Medical School, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2334-591X","authenticated-orcid":false,"given":"Shyam K.","family":"Akula","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Harvard-Massachusetts Institute of Technology MD\/PhD Program, Program in Neuroscience, Harvard Medical School, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6205-3314","authenticated-orcid":false,"given":"Michael B.","family":"Miller","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Department of Pathology, Brigham and Women\u2019s Hospital, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Walsh","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shira","family":"Rockowitz","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Research Computing, Department of Information Technology, Boston Children\u2019s Hospital, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0156-2238","authenticated-orcid":false,"given":"Christopher A.","family":"Walsh","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Department of Pediatrics, Harvard Medical School, Boston, MA 02115"},{"name":"HHMI, Boston Children\u2019s Hospital, Boston, MA 02115"},{"name":"Department of Neurology, Harvard Medical School, Boston, MA 02115"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2023,5,30]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.65"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.2310\/JIM.0b013e3181af59c4"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/374321"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1080\/13854046.2016.1185100"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90125-I"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90397-H"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90283-5"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh683"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012518"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000239837.57475.3a"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1080\/10409238.2020.1841726"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.4.367"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.6.3-4.154"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamapsychiatry.2018.0180"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2010.08.015"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychires.2018.10.014"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1449"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(200023)97:3<195::AID-AJMG1037>3.0.CO;2-R"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/302720"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990528)84:3<250::AID-AJMG17>3.0.CO;2-4"},{"key":"e_1_3_4_21_2","doi-asserted-by":"crossref","unstructured":"I. Oberle Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252 1097\u20131102 (1991).","DOI":"10.1126\/science.252.5009.1097"},{"key":"e_1_3_4_22_2","doi-asserted-by":"crossref","unstructured":"L. Ceolin Cell type-specific mRNA dysregulation in hippocampal CA1 pyramidal neurons of the fragile X syndrome mouse model. Front. Mol. Neurosci. 10 340 (2017).","DOI":"10.3389\/fnmol.2017.00340"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.06.013"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00589-X"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00079-5"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2013.11.009"},{"key":"e_1_3_4_27_2","doi-asserted-by":"crossref","unstructured":"C. Sellier Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to fragile X tremor ataxia syndrome. Neuron 93 331\u2013347 (2017).","DOI":"10.1016\/j.neuron.2016.12.016"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq166"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/glia.24041"},{"key":"e_1_3_4_30_2","doi-asserted-by":"crossref","unstructured":"C. A. Doll K. M. Yergert B. H. Appel The RNA binding protein fragile X mental retardation protein promotes myelin sheath growth. Glia 68 495\u2013508 (2020).","DOI":"10.1002\/glia.23731"},{"key":"e_1_3_4_31_2","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1002\/mds.27553","article-title":"Microglial cell activation and senescence are characteristic of the pathology FXTAS","volume":"33","author":"Mart\u00ednez Cerde\u00f1o V.","year":"2018","unstructured":"V. Mart\u00ednez Cerde\u00f1o, Microglial cell activation and senescence are characteristic of the pathology FXTAS. Mov. Disord. 33, 1887\u20131894 (2018).","journal-title":"Mov. Disord."},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2013.07.009"},{"key":"e_1_3_4_33_2","doi-asserted-by":"crossref","unstructured":"N. Raj Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell Rep. 13 108991 (2021).","DOI":"10.1016\/j.celrep.2021.108991"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-15"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0287-x"},{"key":"e_1_3_4_36_2","first-page":"4870","article-title":"The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients","volume":"25","author":"Esanov R.","year":"2016","unstructured":"R. Esanov, N. S. Andrade, S. Bennison, C. 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Garber Single cell transcriptomics reveals dysregulated cellular and molecular networks in a fragile x syndrome model. bioRxiv [Preprint] (2020). https:\/\/doi.org\/10.1101\/2020.02.12.946780.","DOI":"10.1101\/2020.02.12.946780"},{"key":"e_1_3_4_90_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-021-00913-6"},{"key":"e_1_3_4_91_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresrev.2009.11.004"},{"key":"e_1_3_4_92_2","unstructured":"C. A. Walsh Human Autism Genetics. dbGaPDirect. https:\/\/www.ncbi.nlm.nih.gov\/projects\/gap\/cgi-bin\/study.cgi?study_id=phs000639.v2.p1. 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