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Seven of these exhibit a distinct spationtemporal expression pattern in the developing nervous system implying a role in the regional specification of the developing spinal cord and brain. The Pax genes encode for sequence\u2010specific DNA binding transcription factors that play a key role in embryonic development. Three of these developmental control genes are altered in mutant mice and two are associated with human diseases. Disruption of these Pax genes leads to abnormalities in neural crest derivatives, neuroectoderm, sclerotome or myotome\u2010derived tissues. Disruption of the <jats:italic>Pax\u20103<\/jats:italic> gene causes the <jats:italic>Splotch<\/jats:italic> phenotype in mice and Waardenburg syndrome in humans. <jats:italic>Pax\u20106<\/jats:italic> mutations result in <jats:italic>Small eye<\/jats:italic> mice and the human genetic disorder aniridia. The <jats:italic>Pax\u20101<\/jats:italic> gene is mutated in <jats:italic>undulated<\/jats:italic> mice. Pax proteins can transform cells in culture which then form tumours following injection in nude mice. Consistent with this activity, <jats:italic>PAX3<\/jats:italic> has been recently implicated in the generation of the tumour alveolar rhabdomyosarcoma. \u00a9 1993 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/neu.480241009","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T03:38:51Z","timestamp":1104550731000},"page":"1367-1384","source":"Crossref","is-referenced-by-count":156,"title":["Pax: Gene regulators in the developing nervous system"],"prefix":"10.1002","volume":"24","author":[{"given":"Georges","family":"Chalepakis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anastassia","family":"Stoykova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Wijnholds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Tremblay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Gruss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.6.9.1589"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.902750304"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.901390202"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(92)90023-D"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1401270206"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/355637a0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(88)90039-6"},{"key":"e_1_2_1_9_1","first-page":"132","article-title":"Development of the skeletal system","volume":"165","author":"Balling R.","year":"1992","journal-title":"Ciba Foundation Symposium"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1242\/dev.115.4.999","article-title":"Relationship between Wnt\u20101 and En\u20102 expression domains during early developmental of normal and ectopic met\u2010mesencephalon","volume":"115","author":"Bally\u2010Cuif L.","year":"1992","journal-title":"Development"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-113"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1.10.1247"},{"key":"e_1_2_1_13_1","first-page":"28","article-title":"Mutations at the Sp locus","volume":"75","author":"Beechey C. 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