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Atypical genomic cortical patterning in autism with poor early language outcome.

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cam.issuedOnline2021-09-03
datacite.isderivedfrom.doi10.1101/2020.08.18.253443
dc.contributor.authorLombardo, Michael V
dc.contributor.authorEyler, Lisa
dc.contributor.authorPramparo, Tiziano
dc.contributor.authorGazestani, Vahid H
dc.contributor.authorHagler, Donald J
dc.contributor.authorChen, Chi-Hua
dc.contributor.authorDale, Anders M
dc.contributor.authorSeidlitz, Jakob
dc.contributor.authorBethlehem, Richard AI
dc.contributor.authorBertelsen, Natasha
dc.contributor.authorBarnes, Cynthia Carter
dc.contributor.authorLopez, Linda
dc.contributor.authorCampbell, Kathleen
dc.contributor.authorLewis, Nathan E
dc.contributor.authorPierce, Karen
dc.contributor.authorCourchesne, Eric
dc.contributor.orcidLombardo, Michael V [0000-0001-6780-8619]
dc.contributor.orcidEyler, Lisa [0000-0002-7783-8798]
dc.contributor.orcidDale, Anders M [0000-0002-6126-2966]
dc.contributor.orcidSeidlitz, Jakob [0000-0002-8164-7476]
dc.contributor.orcidBethlehem, Richard AI [0000-0002-0714-0685]
dc.contributor.orcidBertelsen, Natasha [0000-0003-3168-7370]
dc.contributor.orcidBarnes, Cynthia Carter [0000-0001-7664-1099]
dc.contributor.orcidLopez, Linda [0000-0001-9782-8143]
dc.contributor.orcidCampbell, Kathleen [0000-0003-0923-8659]
dc.contributor.orcidLewis, Nathan E [0000-0001-7700-3654]
dc.contributor.orcidPierce, Karen [0000-0001-7690-1030]
dc.contributor.orcidCourchesne, Eric [0000-0002-3772-5799]
dc.date.accessioned2021-10-18T08:47:27Z
dc.date.available2021-10-18T08:47:27Z
dc.date.issued2021-09-03
dc.date.updated2021-10-18T08:47:26Z
dc.description.abstractCortical regionalization develops via genomic patterning along anterior-posterior (A-P) and dorsal-ventral (D-V) gradients. Here, we find that normative A-P and D-V genomic patterning of cortical surface area (SA) and thickness (CT), present in typically developing and autistic toddlers with good early language outcome, is absent in autistic toddlers with poor early language outcome. Autistic toddlers with poor early language outcome are instead specifically characterized by a secondary and independent genomic patterning effect on CT. Genes involved in these effects can be traced back to midgestational A-P and D-V gene expression gradients and different prenatal cell types (e.g., progenitor cells and excitatory neurons), are functionally important for vocal learning and human-specific evolution, and are prominent in prenatal coexpression networks enriched for high-penetrance autism risk genes. Autism with poor early language outcome may be explained by atypical genomic cortical patterning starting in prenatal development, which may detrimentally affect later regional functional specialization and circuit formation.
dc.identifier.doi10.17863/CAM.76971
dc.identifier.eissn2375-2548
dc.identifier.issn2375-2548
dc.identifier.otherPMC8442861
dc.identifier.other34516910
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/329523
dc.languageeng
dc.language.isoeng
dc.publisherAmerican Association for the Advancement of Science (AAAS)
dc.publisher.urlhttp://dx.doi.org/10.1126/sciadv.abh1663
dc.rightsAttribution-NonCommercial 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/
dc.sourceessn: 2375-2548
dc.sourcenlmid: 101653440
dc.subject31 Biological Sciences
dc.subject3105 Genetics
dc.subjectStem Cell Research
dc.subjectNeurosciences
dc.subjectAutism
dc.subjectGenetics
dc.subjectPediatric
dc.subjectBrain Disorders
dc.subjectMental Health
dc.subjectIntellectual and Developmental Disabilities (IDD)
dc.subjectBiotechnology
dc.subjectHuman Genome
dc.subjectStem Cell Research - Nonembryonic - Human
dc.titleAtypical genomic cortical patterning in autism with poor early language outcome.
dc.typeArticle
prism.issueIdentifier36
prism.publicationNameSci Adv
prism.volume7
pubs.funder-project-idMedical Research Council (MR/M009041/1)
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by-nc/4.0/
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1126/sciadv.abh1663

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