{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T11:08:14Z","timestamp":1775646494389,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"the 2030 Science and Technology Innovation Key Program of Ministry of Science and Technology of China","award":["2022ZD020910001"],"award-info":[{"award-number":["2022ZD020910001"]}]},{"name":"the Medical-Engineering Cross Foundation of Shanghai Jiao Tong University","award":["YG2022ZD026"],"award-info":[{"award-number":["YG2022ZD026"]}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81971292"],"award-info":[{"award-number":["81971292"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"the National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["82150610506"],"award-info":[{"award-number":["82150610506"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"the Natural Science Foundation of Shanghai","award":["21ZR1428600"],"award-info":[{"award-number":["21ZR1428600"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Gen. Psychiatry"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>The role of human lineage mutations (HLMs) in human evolution through post\u2010transcriptional modification is unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>To investigate the contribution of HLMs to human evolution through post\u2010transcriptional modification.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We applied a deep learning model Seqweaver to predict how HLMs impact RNA\u2010binding protein affinity.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We found that only 0.27% of HLMs had significant impacts on RNA\u2010binding proteins at the threshold of the top 1% of human common variations. These HLMs enriched in a set of conserved genes highly expressed in adult excitatory neurons and prenatal Purkinje neurons, and were involved in synapse organisation and the GTPase pathway. These genes also carried excess damaging coding mutations that caused neurodevelopmental disorders, ataxia and schizophrenia. Among these genes,\n                      <jats:italic>NTRK2<\/jats:italic>\n                      and\n                      <jats:italic>ITPR1<\/jats:italic>\n                      had the most aggregated evidence of functional importance, suggesting their essential roles in cognition and bipedalism.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our findings suggest that a small subset of human\u2010specific mutations have contributed to human speciation through impacts on post\u2010transcriptional modification of critical brain\u2010related genes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/gpsych-2023-101425","type":"journal-article","created":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T02:15:22Z","timestamp":1715998522000},"update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Human lineage mutations regulate RNA\u2010protein binding of conserved genes\n                    <i>NTRK2<\/i>\n                    and\n                    <i>ITPR1<\/i>\n                    involved in human evolution"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-0781-4668","authenticated-orcid":false,"given":"Wenxiang","family":"Cai","sequence":"first","affiliation":[{"name":"Shanghai Mental Health Center Shanghai Jiao Tong University School of Medicine School of Biomedical Engineering Shanghai Jiao Tong University Shanghai China"},{"name":"Shanghai Key Laboratory of Psychotic Disorders Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weichen","family":"Song","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center Shanghai Jiao Tong University School of Medicine School of Biomedical Engineering Shanghai Jiao Tong University Shanghai China"},{"name":"Shanghai Key Laboratory of Psychotic Disorders Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunying","family":"Yu","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center Shanghai Jiao Tong University School of Medicine School of Biomedical Engineering Shanghai Jiao Tong University Shanghai China"},{"name":"Shanghai Key Laboratory of Psychotic Disorders Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Zhao","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center Shanghai Jiao Tong University School of Medicine School of Biomedical Engineering Shanghai Jiao Tong University Shanghai China"},{"name":"Shanghai Key Laboratory of Psychotic Disorders Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guan Ning","family":"Lin","sequence":"additional","affiliation":[{"name":"Shanghai Mental Health Center Shanghai Jiao Tong University School of Medicine School of Biomedical Engineering Shanghai Jiao Tong University Shanghai China"},{"name":"Shanghai Key Laboratory of Psychotic Disorders Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,5,17]]},"reference":[{"key":"e_1_2_14_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_14_3_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.262113.120"},{"key":"e_1_2_14_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-00804-3"},{"key":"e_1_2_14_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-020-00761-3"},{"key":"e_1_2_14_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/database\/bav096"},{"key":"e_1_2_14_7_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_14_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-03145-z"},{"key":"e_1_2_14_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1906"},{"key":"e_1_2_14_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2021.10.024"},{"key":"e_1_2_14_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btq033"},{"key":"e_1_2_14_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2287-8"},{"key":"e_1_2_14_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_14_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_14_15_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aat7615"},{"key":"e_1_2_14_16_2","doi-asserted-by":"publisher","DOI":"10.1089\/omi.2011.0118"},{"key":"e_1_2_14_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2019.05.002"},{"key":"e_1_2_14_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.12.036"},{"key":"e_1_2_14_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04556-w"},{"key":"e_1_2_14_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-022-01104-0"},{"key":"e_1_2_14_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkx302"},{"key":"e_1_2_14_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_14_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature09298"},{"key":"e_1_2_14_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.01.010"},{"key":"e_1_2_14_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_14_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac392"},{"key":"e_1_2_14_27_2","doi-asserted-by":"publisher","DOI":"10.1136\/gpsych-2022-100889"},{"key":"e_1_2_14_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2832-5"},{"key":"e_1_2_14_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.08.071"},{"key":"e_1_2_14_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/tp.2016.20"},{"key":"e_1_2_14_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4353"}],"container-title":["General Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1136\/gpsych-2023-101425","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1136\/gpsych-2023-101425","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1136\/gpsych-2023-101425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T10:34:38Z","timestamp":1775644478000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1136\/gpsych-2023-101425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,17]]},"references-count":30,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1136\/gpsych-2023-101425"],"URL":"https:\/\/doi.org\/10.1136\/gpsych-2023-101425","archive":["Portico"],"relation":{},"ISSN":["2096-5923","2517-729X"],"issn-type":[{"value":"2096-5923","type":"print"},{"value":"2517-729X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,17]]},"article-number":"e101425"}}