{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T10:59:43Z","timestamp":1767178783344,"version":"build-2238731810"},"update-to":[{"DOI":"10.1371\/journal.pgen.1009441","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T00:00:00Z","timestamp":1617148800000}}],"reference-count":60,"publisher":"Public Library of Science (PLoS)","issue":"3","license":[{"start":{"date-parts":[[2021,3,19]],"date-time":"2021-03-19T00:00:00Z","timestamp":1616112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["STU295\/9-1"],"award-info":[{"award-number":["STU295\/9-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"abstract":"<jats:p>\n                    Biallelic mutations in\n                    <jats:italic>DONSON<\/jats:italic>\n                    , an essential gene encoding for a replication fork protection factor, were linked to skeletal abnormalities and microcephaly. To better understand DONSON function in corticogenesis, we characterized\n                    <jats:italic>Donson<\/jats:italic>\n                    expression and consequences of conditional\n                    <jats:italic>Donson<\/jats:italic>\n                    deletion in the mouse telencephalon.\n                    <jats:italic>Donson<\/jats:italic>\n                    was widely expressed in the proliferation and differentiation zones of the embryonic dorsal and ventral telencephalon, which was followed by a postnatal expression decrease.\n                    <jats:italic>Emx1<\/jats:italic>\n                    -Cre-mediated\n                    <jats:italic>Donson<\/jats:italic>\n                    deletion in progenitors of cortical glutamatergic neurons caused extensive apoptosis in the early dorsomedial neuroepithelium, thus preventing formation of the neocortex and hippocampus. At the place of the missing lateral neocortex, these mutants exhibited a dorsal extension of an early-generated paleocortex. Targeting cortical neurons at the intermediate progenitor stage using\n                    <jats:italic>Tbr2<\/jats:italic>\n                    -Cre evoked no apparent malformations, whereas\n                    <jats:italic>Nkx2<\/jats:italic>\n                    .\n                    <jats:italic>1<\/jats:italic>\n                    -Cre-mediated\n                    <jats:italic>Donson<\/jats:italic>\n                    deletion in subpallial progenitors ablated 75% of\n                    <jats:italic>Nkx2<\/jats:italic>\n                    .\n                    <jats:italic>1<\/jats:italic>\n                    -derived cortical GABAergic neurons. Thus, the early telencephalic neuroepithelium depends critically on Donson function. Our findings help explain why the neocortex is most severely affected in individuals with\n                    <jats:italic>DONSON<\/jats:italic>\n                    mutations and suggest that DONSON-dependent microcephaly might be associated with so far unrecognized defects in cortical GABAergic neurons. Targeting\n                    <jats:italic>Donson<\/jats:italic>\n                    using an appropriate recombinase is proposed as a feasible strategy to ablate proliferating and nascent cells in experimental research.\n                  <\/jats:p>","DOI":"10.1371\/journal.pgen.1009441","type":"journal-article","created":{"date-parts":[[2021,3,19]],"date-time":"2021-03-19T13:35:36Z","timestamp":1616160936000},"page":"e1009441","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":2,"title":["The microcephaly gene Donson is essential for progenitors of cortical glutamatergic and GABAergic neurons"],"prefix":"10.1371","volume":"17","author":[{"given":"Sathish","family":"Venkataramanappa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9545-1466","authenticated-orcid":true,"given":"Dagmar","family":"Sch\u00fctz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friederike","family":"Saaber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Praveen Ashok","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8067-1802","authenticated-orcid":true,"given":"Philipp","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9458-5526","authenticated-orcid":true,"given":"Ralf","family":"Stumm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2021,3,19]]},"reference":[{"key":"pgen.1009441.ref001","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1750-1172-6-39","article-title":"Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum.","volume":"6","author":"S Mahmood","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"pgen.1009441.ref002","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1017\/S0016672318000046","article-title":"Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).","volume":"100","author":"M Naveed","year":"2018","journal-title":"Genet Res (Camb)."},{"issue":"2","key":"pgen.1009441.ref003","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/ajmg.c.31397","article-title":"\u2019Driscoll M. 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