{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:22:22Z","timestamp":1791408142827,"version":"4.3.3"},"reference-count":48,"publisher":"Cold Spring Harbor Laboratory","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Dev."],"published-print":{"date-parts":[[2003,1,15]]},"abstract":"<jats:p>\n                    Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome. Although mice deficient in Tbx1 exhibit pharyngeal and aortic arch defects, the developmental program and mechanisms through which Tbx1 functions are relatively unknown. We identified a single\n                    <jats:italic>cis<\/jats:italic>\n                    -element upstream of\n                    <jats:italic>Tbx1<\/jats:italic>\n                    that recognized winged helix\/forkhead box (Fox)-containing transcription factors and was essential for regulation of\n                    <jats:italic>Tbx1<\/jats:italic>\n                    transcription in the pharyngeal endoderm and head mesenchyme. The\n                    <jats:italic>Tbx1<\/jats:italic>\n                    regulatory region was responsive to signaling by Sonic hedgehog (Shh) in vivo. We show that Shh is necessary for aortic arch development, similar to Tbx1, and is also required for expression of\n                    <jats:italic>Foxa2<\/jats:italic>\n                    and\n                    <jats:italic>Foxc2<\/jats:italic>\n                    in the pharyngeal endoderm and head mesenchyme, respectively. Foxa2, Foxc1, or Foxc2 could bind and activate transcription through the critical\n                    <jats:italic>cis<\/jats:italic>\n                    -element upstream of\n                    <jats:italic>Tbx1<\/jats:italic>\n                    , and Foxc proteins were required, within their expression domains, for\n                    <jats:italic>Tbx1<\/jats:italic>\n                    transcription in vivo. We propose that\n                    <jats:italic>Tbx1<\/jats:italic>\n                    is a direct transcriptional target of Fox proteins and that Fox proteins may serve an intermediary role in Shh regulation of\n                    <jats:italic>Tbx1<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1101\/gad.1048903","type":"journal-article","created":{"date-parts":[[2003,1,17]],"date-time":"2003-01-17T22:42:08Z","timestamp":1042843328000},"page":"269-281","source":"Crossref","is-referenced-by-count":246,"title":["<i>Tbx1<\/i>\n                    is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer"],"prefix":"10.1101","volume":"17","author":[{"given":"Hiroyuki","family":"Yamagishi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Maeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tonghuan","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"McAnally","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon J.","family":"Conway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Kume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik N.","family":"Meyers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chihiro","family":"Yamagishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[2003,1,15]]},"reference":[{"key":"2021111519023408000_17.2.269.1","doi-asserted-by":"crossref","first-page":"4613","DOI":"10.1242\/dev.129.19.4613","article-title":"Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse.","volume":"129","author":"Abu-Issa","year":"2002","journal-title":"Development"},{"key":"2021111519023408000_17.2.269.2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90522-3"},{"key":"2021111519023408000_17.2.269.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0794-383"},{"key":"2021111519023408000_17.2.269.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199608)206:4<379::AID-AJA4>3.0.CO;2-F"},{"key":"2021111519023408000_17.2.269.5","doi-asserted-by":"publisher","DOI":"10.1038\/383407a0"},{"key":"2021111519023408000_17.2.269.6","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(02)00459-8"},{"key":"2021111519023408000_17.2.269.7","doi-asserted-by":"publisher","DOI":"10.1086\/316915"},{"key":"2021111519023408000_17.2.269.8","doi-asserted-by":"crossref","first-page":"4591","DOI":"10.1242\/dev.129.19.4591","article-title":"An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome.","volume":"129","author":"Frank","year":"2002","journal-title":"Development"},{"key":"2021111519023408000_17.2.269.9","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0283"},{"key":"2021111519023408000_17.2.269.10","doi-asserted-by":"publisher","DOI":"10.1126\/science.1065175"},{"key":"2021111519023408000_17.2.269.11","doi-asserted-by":"publisher","DOI":"10.1086\/301718"},{"key":"2021111519023408000_17.2.269.12","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8589"},{"key":"2021111519023408000_17.2.269.13","doi-asserted-by":"crossref","first-page":"4627","DOI":"10.1242\/dev.124.22.4627","article-title":"Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis.","volume":"124","author":"Iida","year":"1997","journal-title":"Development"},{"key":"2021111519023408000_17.2.269.14","doi-asserted-by":"publisher","DOI":"10.1038\/85845"},{"key":"2021111519023408000_17.2.269.15","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1101\/gad.14.2.142","article-title":"Unified nomenclature for the winged helix\/forkhead transcription factors.","volume":"14","author":"Kaestner","year":"2000","journal-title":"Genes & Dev."},{"key":"2021111519023408000_17.2.269.16","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(96)00539-4"},{"key":"2021111519023408000_17.2.269.17","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(01)00040-5"},{"key":"2021111519023408000_17.2.269.18","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1161\/01.RES.77.2.211","article-title":"Neural crest and cardiovascular patterning.","volume":"77","author":"Kirby","year":"1995","journal-title":"Circ. Res."},{"key":"2021111519023408000_17.2.269.19","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1242\/dev.105.4.707","article-title":"Inducible expression of an hsp68\u2013lacZ hybrid gene in transgenic mice.","volume":"105","author":"Kothary","year":"1989","journal-title":"Development"},{"key":"2021111519023408000_17.2.269.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81204-0"},{"key":"2021111519023408000_17.2.269.21","doi-asserted-by":"publisher","DOI":"10.1101\/gad.907301"},{"key":"2021111519023408000_17.2.269.22","doi-asserted-by":"publisher","DOI":"10.1038\/76080"},{"key":"2021111519023408000_17.2.269.23","doi-asserted-by":"publisher","DOI":"10.1038\/35098574"},{"key":"2021111519023408000_17.2.269.24","doi-asserted-by":"publisher","DOI":"10.1038\/43903"},{"key":"2021111519023408000_17.2.269.25","doi-asserted-by":"publisher","DOI":"10.1038\/35065105"},{"key":"2021111519023408000_17.2.269.26","doi-asserted-by":"publisher","DOI":"10.1002\/bies.1126"},{"key":"2021111519023408000_17.2.269.27","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81555-X"},{"key":"2021111519023408000_17.2.269.28","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00247-1"},{"key":"2021111519023408000_17.2.269.29","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0409"},{"key":"2021111519023408000_17.2.269.30","doi-asserted-by":"crossref","first-page":"289","DOI":"10.3109\/10520299409106304","article-title":"Chemical dehydration for rapid paraffin embedding.","volume":"69","author":"Moller","year":"1994","journal-title":"Biotech. Histochem."},{"key":"2021111519023408000_17.2.269.31","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1521-1878(199801)20:1<9::AID-BIES4>3.0.CO;2-Q"},{"key":"2021111519023408000_17.2.269.32","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/23.23.4878"},{"key":"2021111519023408000_17.2.269.33","unstructured":"Sadler T. (2000) Head and neck. in Langman's medical embryology, ed Katz S. (Lippincott, William & Wilkins, Baltimore, MD), 8th ed. pp 345\u2013381."},{"key":"2021111519023408000_17.2.269.34","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1242\/dev.124.7.1313","article-title":"A binding site for Gli proteins is essential for HNF-3\u03b2 floor plate enhancer activity in transgenics and can respond to Shh in vitro.","volume":"124","author":"Sasaki","year":"1997","journal-title":"Development"},{"key":"2021111519023408000_17.2.269.35","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.16.2421"},{"key":"2021111519023408000_17.2.269.36","doi-asserted-by":"publisher","DOI":"10.1002\/bies.950190605"},{"key":"2021111519023408000_17.2.269.37","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3058"},{"key":"2021111519023408000_17.2.269.38","doi-asserted-by":"crossref","unstructured":"Scott V. Clark A.R. Docherty K. (1994) The gel retardation assay. in Methods in molecular biology, Vol. 31: Protocols for gene analysis, ed Harwood A.J. (Human Press, Totowa, NJ), pp 339\u2013347.","DOI":"10.1385\/0-89603-258-2:339"},{"key":"2021111519023408000_17.2.269.39","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(99)01693-5"},{"key":"2021111519023408000_17.2.269.40","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.915"},{"key":"2021111519023408000_17.2.269.41","doi-asserted-by":"crossref","first-page":"4605","DOI":"10.1242\/dev.129.19.4605","article-title":"A genetic link between Tbx1 and fibroblast growth factor signaling.","volume":"129","author":"Vitelli","year":"2002","journal-title":"Development"},{"key":"2021111519023408000_17.2.269.42","doi-asserted-by":"crossref","first-page":"3179","DOI":"10.1242\/dev.128.16.3179","article-title":"Conotruncal myocardium arises from a secondary heart field.","volume":"128","author":"Waldo","year":"2001","journal-title":"Development"},{"key":"2021111519023408000_17.2.269.43","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90523-1"},{"key":"2021111519023408000_17.2.269.44","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.7.926"},{"key":"2021111519023408000_17.2.269.45","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9382"},{"key":"2021111519023408000_17.2.269.46","doi-asserted-by":"crossref","first-page":"77","DOI":"10.2302\/kjm.51.77","article-title":"The 22q11.2 deletion syndrome.","volume":"51","author":"Yamagishi","year":"2002","journal-title":"Keio J. Med."},{"key":"2021111519023408000_17.2.269.47","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1172\/JCI8856","article-title":"The basic helix\u2013loop\u2013helix transcription factor, dHAND, is required for vascular development.","volume":"105","author":"Yamagishi","year":"2000","journal-title":"J. Clin. Invest."},{"key":"2021111519023408000_17.2.269.48","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0417"}],"container-title":["Genes &amp; Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/gad.1048903","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T22:09:58Z","timestamp":1637014198000},"score":1,"resource":{"primary":{"URL":"http:\/\/genesdev.cshlp.org\/lookup\/doi\/10.1101\/gad.1048903"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,1,15]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,1,15]]}},"alternative-id":["10.1101\/gad.1048903"],"URL":"https:\/\/doi.org\/10.1101\/gad.1048903","relation":{},"ISSN":["0890-9369","1549-5477"],"issn-type":[{"value":"0890-9369","type":"print"},{"value":"1549-5477","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,1,15]]}}}