{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:04:00Z","timestamp":1790420640546,"version":"4.1.0"},"reference-count":32,"publisher":"National Academy of Sciences","issue":"28","license":[{"start":{"date-parts":[[2018,12,26]],"date-time":"2018-12-26T00:00:00Z","timestamp":1545782400000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"funder":[{"DOI":"10.13039\/100000025","name":"HHS | NIH | National Institute of Mental Health","doi-asserted-by":"publisher","award":["1ZIAMH002949-01"],"award-info":[{"award-number":["1ZIAMH002949-01"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2018,7,10]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Sex-chromosome dosage (SCD) effects on human gene expression are central to the biology of sex differences and sex-chromosome aneuploidy syndromes but are challenging to study given the cosegregation of SCD and gonadal status. We address this obstacle by systematically modeling SCD effects on genome-wide expression data from a large and rare cohort of individuals with diverse SCDs (XO, XX, XXX, XXXX, XY, XXY, XYY, XXYY, and XXXXY). Our findings update current models of sex-chromosome biology by (\n                    <jats:italic>i<\/jats:italic>\n                    ) pinpointing a core set of X- and Y-linked genes with obligate SCD sensitivity, (\n                    <jats:italic>ii<\/jats:italic>\n                    ) discovering several noncanonical modes of X-chromosome dosage compensation, and (\n                    <jats:italic>iii<\/jats:italic>\n                    ) dissecting complex regulatory effects of X-chromosome dosage on large autosomal gene networks with key roles in cellular functioning.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1802889115","type":"journal-article","created":{"date-parts":[[2018,6,26]],"date-time":"2018-06-26T11:43:15Z","timestamp":1530013395000},"page":"7398-7403","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":177,"title":["Sex-chromosome dosage effects on gene expression in humans"],"prefix":"10.1073","volume":"115","author":[{"given":"Armin","family":"Raznahan","sequence":"first","affiliation":[{"name":"Developmental Neurogenomics Unit, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neelroop N.","family":"Parikshak","sequence":"additional","affiliation":[{"name":"Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;"},{"name":"Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vijay","family":"Chandran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, University of Florida, Gainesville, FL 32610;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan D.","family":"Blumenthal","sequence":"additional","affiliation":[{"name":"Developmental Neurogenomics Unit, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liv S.","family":"Clasen","sequence":"additional","affiliation":[{"name":"Developmental Neurogenomics Unit, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron F.","family":"Alexander-Bloch","sequence":"additional","affiliation":[{"name":"Developmental Neurogenomics Unit, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Zinn","sequence":"additional","affiliation":[{"name":"McDermott Center for Human Growth and Development, University of Texas Southwestern Medical School, Dallas, TX 75390;"},{"name":"Department of Internal Medicine, University of Texas Southwestern Medical School, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danny","family":"Wangsa","sequence":"additional","affiliation":[{"name":"Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasen","family":"Wise","sequence":"additional","affiliation":[{"name":"Qiagen, Frederick, MD 21703;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Declan G. M.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Institute of Psychiatry, Psychology and Neuroscience, King\u2019s College London, University of London, London WC1B 5DN, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F.","family":"Bolton","sequence":"additional","affiliation":[{"name":"Institute of Psychiatry, Psychology and Neuroscience, King\u2019s College London, University of London, London WC1B 5DN, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Ried","sequence":"additional","affiliation":[{"name":"Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Ross","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay N.","family":"Giedd","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel H.","family":"Geschwind","sequence":"additional","affiliation":[{"name":"Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;"},{"name":"Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, CA 90095;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2018,6,26]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-090711-163855"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001899"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2011.10.004"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0913843107"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx014"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70302-8"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.3109\/08916934.2014.968918"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.266.5193.1999"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1305638110"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13293-015-0053-7"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01722"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature13206"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3687"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature03479"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1262110"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature24265"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/molbev\/mss267"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/gbe\/evt139"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature09906"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-12-0934"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3934"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.01.007"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2016.04.013"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2011.01.004"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep34220"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002900"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.03.014"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1209227109"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1207726109"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1186\/1744-9081-3-24"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts366"},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-10-48"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.1802889115","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.1802889115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T03:28:22Z","timestamp":1649820502000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.1802889115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,26]]},"references-count":32,"journal-issue":{"issue":"28","published-print":{"date-parts":[[2018,7,10]]}},"alternative-id":["10.1073\/pnas.1802889115"],"URL":"https:\/\/doi.org\/10.1073\/pnas.1802889115","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.733518826.793555191","asserted-by":"object"}],"has-preprint":[{"id-type":"doi","id":"10.1101\/137752","asserted-by":"object"}]},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,26]]},"assertion":[{"value":"2018-06-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}