{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T14:29:42Z","timestamp":1790519382072,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,10,15]],"date-time":"2019-10-15T00:00:00Z","timestamp":1571097600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP18K0691"],"award-info":[{"award-number":["JP18K0691"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP26253020"],"award-info":[{"award-number":["JP26253020"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004096","name":"Kyushu University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004096","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes to Cells"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is a rare autosomal recessive disorder caused by mutations in either <jats:italic>DNMT3B<\/jats:italic>, <jats:italic>ZBTB24<\/jats:italic>, <jats:italic>CDCA7<\/jats:italic>, <jats:italic>HELLS<\/jats:italic> or an unknown gene(s). Among the known causative genes, <jats:italic>ZBTB24<\/jats:italic> encodes a member of the BTB\u2010zinc finger (ZF) transcription factor family. The protein possesses a BTB domain, an AT\u2010hook and eight C2H2 ZF motifs. All <jats:italic>ZBTB24<\/jats:italic> mutations reported in ICF patients are predicted to disrupt at least one ZF motif. Here, we show that both AT\u2010hook and distinct ZF motifs, particularly the 6th motif, of human and mouse ZBTB24 proteins are important for their heterochromatin localization. On the other hand, the 6th and 7th ZF motifs, and not the AT\u2010hook or the BTB domain, of the human and mouse proteins are essential for transcriptional activation of <jats:italic>CDCA7<\/jats:italic>, another ICF causative gene and a known target of ZBTB24. By deletion analysis of the human <jats:italic>CDCA7<\/jats:italic> promoter, we show that two motifs for ZBTB24 binding are important for transcriptional activation of this gene. These results reveal the evolutionarily conserved domains and motifs important for the biological function of ZBTB24, which provides a basis for understanding the molecular mechanisms underlying the pathogenesis of ICF syndrome.<\/jats:p>","DOI":"10.1111\/gtc.12723","type":"journal-article","created":{"date-parts":[[2019,9,28]],"date-time":"2019-09-28T04:07:48Z","timestamp":1569643668000},"page":"746-755","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification of ZBTB24 protein domains and motifs for heterochromatin localization and transcriptional activation"],"prefix":"10.1111","volume":"24","author":[{"given":"Sharmin","family":"Aktar","sequence":"first","affiliation":[{"name":"Division of Epigenomics and Development Medical Institute of Bioregulation Kyushu University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Division of Epigenomics and Development Medical Institute of Bioregulation Kyushu University Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9629-3818","authenticated-orcid":false,"given":"Motoko","family":"Unoki","sequence":"additional","affiliation":[{"name":"Division of Epigenomics and Development Medical Institute of Bioregulation Kyushu University Fukuoka 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