{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T05:12:18Z","timestamp":1787461938918,"version":"build-2736575974"},"reference-count":67,"publisher":"National Academy of Sciences","issue":"4","license":[{"start":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T00:00:00Z","timestamp":1737590400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82188101"],"award-info":[{"award-number":["82188101"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People's Republic of China","doi-asserted-by":"publisher","award":["2019YFA0508402"],"award-info":[{"award-number":["2019YFA0508402"]}],"id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"MOST | National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31721002 81920208014 31930051"],"award-info":[{"award-number":["31721002 81920208014 31930051"]}],"id":[{"id":"10.13039\/501100001809","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":[[2025,1,28]]},"abstract":"<jats:p>\n                    Ankyrin Repeat Domain-containing Protein 11 (\n                    <jats:italic>ANKRD11<\/jats:italic>\n                    ) is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of\n                    <jats:italic>ANKRD11<\/jats:italic>\n                    lead to developmental abnormalities in multiple organs\/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why\n                    <jats:italic>ANKRD11<\/jats:italic>\n                    mutation can cause CdLS. The crystal structure of the ANKRD11 peptide in complex with cohesin, together with biochemical experiments, revealed that ANKRD11 competes with CCCTC-binding factor in binding to the cohesin complex. Importantly, a single point mutation in ANKRD11 (Tyr347 to Ala) specifically disrupted the interaction between ANKRD11 and cohesin and perturbed gene expressions in a mouse embryonic stem cell model. Mice carrying the ANKRD11 Y347A mutation display neural and craniofacial anomalies, which mirror clinical phenotypes observed in KBG syndrome patients. Thus, our study reveals how ANKRD11 functions together with cohesin to regulate gene expression and also provides insights into the molecular mechanisms underpinning developmental disorders caused by\n                    <jats:italic>ANKRD11<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2417346122","type":"journal-article","created":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T11:15:58Z","timestamp":1737630958000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":5,"title":["ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome"],"prefix":"10.1073","volume":"122","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1067-8747","authenticated-orcid":false,"given":"Haiyang","family":"Liu","sequence":"first","affiliation":[{"name":"Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology","place":["Shenzhen, China"]},{"name":"Greater Bay Biomedical Innocenter, Shenzhen Bay Laboratory","place":["Shenzhen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology, School of Basic Medicine and Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"The Institute for Brain Research, Collaborative Innovation Center for Brain Science, Huazhong University of Science and Technology","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4525-4261","authenticated-orcid":false,"given":"Qixu","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, State Key Laboratory of Vaccines for Infectious Diseases, School of Public Health, Xiamen University","place":["Xiamen, Fujian, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8437-1471","authenticated-orcid":false,"given":"Jie","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Respiratory Disease, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences","place":["Guangzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6106-7661","authenticated-orcid":false,"given":"Hongxin","family":"Zhong","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Respiratory Disease, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences","place":["Guangzhou, China"]},{"name":"Guangzhou National Laboratory","place":["Guangzhou, China"]},{"name":"University of Chinese Academy of Sciences","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gongcheng","family":"Hu","sequence":"additional","affiliation":[{"name":"Guangzhou National Laboratory","place":["Guangzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuaizhu","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology, School of Basic Medicine and Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"The Institute for Brain Research, Collaborative Innovation Center for Brain Science, Huazhong University of Science and Technology","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuli","family":"Lu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Respiratory Disease, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences","place":["Guangzhou, China"]},{"name":"University of Chinese Academy of Sciences","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yudi","family":"Mao","sequence":"additional","affiliation":[{"name":"Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology","place":["Shenzhen, China"]},{"name":"Greater Bay Biomedical Innocenter, Shenzhen Bay Laboratory","place":["Shenzhen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youming","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology, School of Basic Medicine and Tongji Medical College, Huazhong University of Science and Technology","place":["Wuhan, China"]},{"name":"The Institute for Brain Research, Collaborative Innovation Center for Brain Science, Huazhong University of Science and Technology","place":["Wuhan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2144-0147","authenticated-orcid":false,"given":"Hongjie","family":"Yao","sequence":"additional","affiliation":[{"name":"Guangzhou National Laboratory","place":["Guangzhou, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9404-0190","authenticated-orcid":false,"given":"Mingjie","family":"Zhang","sequence":"additional","affiliation":[{"name":"Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology","place":["Shenzhen, China"]},{"name":"Greater Bay Biomedical Innocenter, Shenzhen Bay Laboratory","place":["Shenzhen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2025,1,23]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13977"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.06.007"},{"key":"e_1_3_4_3_2","first-page":"183","article-title":"KBG syndrome","volume":"12","author":"Brancati F.","year":"2006","unstructured":"F. 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L. Nguyen E. Smith I. M. Cheeseman Co-essentiality analysis identifies PRR12 as a regulator of cohesin and genome integrity. bioXriv [Preprint] (2024). https:\/\/www.biorxiv.org\/content\/10.1101\/2024.03.29.587394v1 (Accessed 1 April 2024).","DOI":"10.1101\/2024.03.29.587394"},{"key":"e_1_3_4_45_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad756"},{"key":"e_1_3_4_46_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkad267"},{"key":"e_1_3_4_47_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1877-0"},{"key":"e_1_3_4_48_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01129-6"},{"key":"e_1_3_4_49_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62513"},{"key":"e_1_3_4_50_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-08949-w"},{"key":"e_1_3_4_51_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-022-01223-8"},{"key":"e_1_3_4_52_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00291"},{"key":"e_1_3_4_53_2","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11164687"},{"key":"e_1_3_4_54_2","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci9110313"},{"key":"e_1_3_4_55_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.02.029"},{"key":"e_1_3_4_56_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3663"},{"key":"e_1_3_4_57_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2024.102159"},{"key":"e_1_3_4_58_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1022339"},{"key":"e_1_3_4_59_2","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22584"},{"key":"e_1_3_4_60_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00631"},{"key":"e_1_3_4_61_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62679"},{"key":"e_1_3_4_62_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-018-0266-2"},{"key":"e_1_3_4_63_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.141465"},{"key":"e_1_3_4_64_2","unstructured":"H. G. Valverde de Morales H. L. Wang K. Garber V. Corces H. Li \u201cCTCF-related disorder\u201d in GeneReviews\u00ae [Internet] M. P. Adam Eds. (University of Washington Seattle WA 1993-2025). https:\/\/www.ncbi.nlm.nih.gov\/sites\/books\/NBK603087\/."},{"key":"e_1_3_4_65_2","unstructured":"H. Liu Q. Cai M. Zhang Data from \u201cComplex structure of ANKRD11\/STAG2\/RAD21.\u201d Protein Data Bank. https:\/\/www.rcsb.org\/structure\/9J0A. Deposited 2 August 2024."},{"key":"e_1_3_4_66_2","unstructured":"H. Liu Data from \u201cANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.\u201d GEO. https:\/\/submit.ncbi.nlm.nih.gov\/geo\/submission\/update\/?acc=GSE273955. Deposited 4 August 2024."},{"key":"e_1_3_4_67_2","unstructured":"H. Liu Data from \u201cANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.\u201d GSA. https:\/\/ngdc.cncb.ac.cn\/gsa\/s\/h375PZJr. Deposited 1 August 2024."}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.2417346122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,23]],"date-time":"2025-01-23T11:17:29Z","timestamp":1737631049000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/10.1073\/pnas.2417346122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,23]]},"references-count":67,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,1,28]]}},"alternative-id":["10.1073\/pnas.2417346122"],"URL":"https:\/\/doi.org\/10.1073\/pnas.2417346122","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,23]]},"assertion":[{"value":"2024-08-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2417346122"}}