{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:27:35Z","timestamp":1790008055539,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,21]],"date-time":"2014-04-21T00:00:00Z","timestamp":1398038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["076289"],"award-info":[{"award-number":["076289"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["082211"],"award-info":[{"award-number":["082211"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>Nipbl<\/jats:italic> (<jats:italic>Scc2<\/jats:italic>) and <jats:italic>Mau2<\/jats:italic> (<jats:italic>Scc4<\/jats:italic>) encode evolutionary conserved proteins that play a vital role for loading the cohesin complex onto chromosomes, thereby ensuring accurate chromosome segregation during cell division. While mutations in human <jats:italic>NIPBL<\/jats:italic> are known to cause the developmental disorder Cornelia de Lange syndrome, the functions of <jats:italic>Nipbl<\/jats:italic> and <jats:italic>Mau2<\/jats:italic> in mammalian development are poorly defined. Here we generated conditional alleles for both genes in mice and show that neural crest cell\u2010specific inactivation of <jats:italic>Nipbl<\/jats:italic> or <jats:italic>Mau2<\/jats:italic> strongly affects craniofacial development. Surprisingly, the early phase of neural crest cell proliferation and migration is only moderately affected in these mutants. Moreover, we found that <jats:italic>Mau2<\/jats:italic> single homozygous mutants exhibited a more severe craniofacial phenotype when compared to that of <jats:italic>Nipbl<\/jats:italic>;<jats:italic>Mau2<\/jats:italic> double homozygous mutants. This raises the possibility that the Mau2\/Nipbl protein interaction is not only required for cohesin loading, but may also be required to restrict the level of Nipbl involved in regulating gene expression. Together, the data suggest that proliferating neural crest cells tolerate a substantial reduction of cohesin loading proteins and we propose that the successive decrease of cohesin loading proteins in neural crest cells may alter developmental gene regulation in a highly dynamic manner. genesis 52:687\u2013694, 2014. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvg.22780","type":"journal-article","created":{"date-parts":[[2014,4,4]],"date-time":"2014-04-04T08:06:06Z","timestamp":1396598766000},"page":"687-694","source":"Crossref","is-referenced-by-count":28,"title":["Neural crest cell\u2010specific inactivation of <i>Nipbl<\/i> or <i>Mau2<\/i> during mouse development results in a late onset of craniofacial defects"],"prefix":"10.1002","volume":"52","author":[{"given":"Terence Gordon","family":"Smith","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway Newcastle upon Tyne NE1 3BZ United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Laval","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway Newcastle upon Tyne NE1 3BZ United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fangli","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway Newcastle upon Tyne NE1 3BZ United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew James","family":"Rock","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway Newcastle upon Tyne NE1 3BZ United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Strachan","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway Newcastle upon Tyne NE1 3BZ United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko","family":"Peters","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway Newcastle upon Tyne NE1 3BZ United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,21]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.175"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.8.1671"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80420-7"},{"key":"e_1_2_3_5_1","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.2144\/03346bm03","article-title":"Optimized vector for conditional gene targeting in mouse embryonic stem cells","volume":"34","author":"Conrad 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