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Seaver Foundation","doi-asserted-by":"publisher","award":["-"],"award-info":[{"award-number":["-"]}],"id":[{"id":"10.13039\/100012695","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["MH111679"],"award-info":[{"award-number":["MH111679"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["T32 MH087004"],"award-info":[{"award-number":["T32 MH087004"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NICHD-Interdisciplinary Training Program in Systems and Developmental Biology and Birth Defects","award":["T32 HD075735"],"award-info":[{"award-number":["T32 HD075735"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Molecular Autism"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Phelan-McDermid syndrome (PMS) is a rare genetic disorder with high risk of autism spectrum disorder (ASD), intellectual disability, and language delay, and is caused by 22q13.3 deletions or mutations in the\n                      <jats:italic>SHANK3<\/jats:italic>\n                      gene. To date, the molecular and pathway changes resulting from\n                      <jats:italic>SHANK3<\/jats:italic>\n                      haploinsufficiency in PMS remain poorly understood. Uncovering these mechanisms is critical for understanding pathobiology of PMS and, ultimately, for the development of new therapeutic interventions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We developed human-induced pluripotent stem cell (hiPSC)-based models of PMS by reprogramming peripheral blood samples from individuals with PMS (\n                      <jats:italic>n<\/jats:italic>\n                      = 7) and their unaffected siblings (\n                      <jats:italic>n<\/jats:italic>\n                      = 6). For each participant, up to three hiPSC clones were generated and differentiated into induced neural progenitor cells (hiPSC-NPCs;\n                      <jats:italic>n<\/jats:italic>\n                      = 39) and induced forebrain neurons (hiPSC-neurons;\n                      <jats:italic>n<\/jats:italic>\n                      = 41). Genome-wide RNA-sequencing was applied to explore transcriptional differences between PMS probands and unaffected siblings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Transcriptome analyses identified 391 differentially expressed genes (DEGs) in hiPSC-NPCs and 82 DEGs in hiPSC-neurons, when comparing cells from PMS probands and unaffected siblings (FDR &lt;\u20095%). Genes under-expressed in PMS were implicated in Wnt signaling, embryonic development, and protein translation, while over-expressed genes were enriched for pre- and postsynaptic density genes, regulation of synaptic plasticity, and G-protein-gated potassium channel activity. Gene co-expression network analysis identified two modules in hiPSC-neurons that were over-expressed in PMS, implicating postsynaptic signaling and GDP binding, and both modules harbored a significant enrichment of genetic risk loci for developmental delay and intellectual disability. Finally, PMS-associated genes were integrated with other ASD hiPSC transcriptome findings and several points of convergence were identified, indicating altered Wnt signaling and extracellular matrix.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Limitations<\/jats:title>\n                    <jats:p>\n                      Given the rarity of the condition, we could not carry out experimental validation in independent biological samples. In addition, functional and morphological phenotypes caused by loss of\n                      <jats:italic>SHANK3<\/jats:italic>\n                      were not characterized here.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This is the largest human neural sample analyzed in PMS. Genome-wide RNA-sequencing in hiPSC-derived neural cells from individuals with PMS revealed both shared and distinct transcriptional signatures across hiPSC-NPCs and hiPSC-neurons, including many genes implicated in risk for ASD, as well as specific neurobiological pathways, including the Wnt pathway.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13229-020-00355-0","type":"journal-article","created":{"date-parts":[[2020,6,19]],"date-time":"2020-06-19T07:03:52Z","timestamp":1592550232000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism"],"prefix":"10.1186","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6739-939X","authenticated-orcid":false,"given":"Michael S.","family":"Breen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Browne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0957-0224","authenticated-orcid":false,"given":"Gabriel E.","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Stathopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0993-5956","authenticated-orcid":false,"given":"Kristen","family":"Brennand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8898-8313","authenticated-orcid":false,"given":"Joseph D.","family":"Buxbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Drapeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,19]]},"reference":[{"issue":"1","key":"355_CR1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/2040-2392-4-17","volume":"4","author":"C Betancur","year":"2013","unstructured":"Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: a \"common\" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Mol Autism. 2013;4(1):17.","journal-title":"Mol Autism"},{"issue":"9","key":"355_CR2","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004580","volume":"10","author":"CS Leblond","year":"2014","unstructured":"Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, et al. Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014;10(9):e1004580.","journal-title":"PLoS Genet"},{"issue":"3","key":"355_CR3","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ejhg.2012.175","volume":"21","author":"L Boccuto","year":"2013","unstructured":"Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, et al. 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