{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T06:33:47Z","timestamp":1767162827303,"version":"build-2238731810"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,12,13]],"date-time":"2007-12-13T00:00:00Z","timestamp":1197504000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Hirschsprung's disease (HSCR, colonic aganglionosis) is an oligogenic entity that usually requires mutations in\n                    <jats:italic>RET<\/jats:italic>\n                    and other interacting loci. Decreased levels of\n                    <jats:italic>RET<\/jats:italic>\n                    expression may lead to the manifestation of HSCR. We previously showed that\n                    <jats:italic>RET<\/jats:italic>\n                    transcription was decreased due to alteration of the NKX2\u20131 binding site by two HSCR\u2010associated\n                    <jats:italic>RET<\/jats:italic>\n                    promoter single nucleotide polymorphisms (SNPs). This prompted us to investigate whether DNA alterations in\n                    <jats:italic>NKX2\u20101<\/jats:italic>\n                    could play a role in HSCR by affecting the\n                    <jats:italic>RET<\/jats:italic>\n                    \u2010regulatory properties of the NKX2\u20131 protein. Our initial study on 86 Chinese HSCR patients revealed a Gly322Ser amino acid substitution in the NKX2\u20131 protein. In this study, we have examined 102 additional Chinese and 70 Caucasian patients and 194 Chinese and 60 Caucasian unselected, unrelated, subjects as controls. The relevance of the DNA changes detected in\n                    <jats:italic>NKX2\u20101<\/jats:italic>\n                    by direct sequencing were evaluated using bioinformatics, reporter and binding\u2010assays, mouse neurosphere culture, immunohistochemistry and immunofluorescence techniques. Met3Leu and Pro48Pro were identified in 2 Caucasian and 1 Chinese patients respectively.\n                    <jats:italic>In vitro<\/jats:italic>\n                    analysis showed that Met3Leu reduced the activity of the\n                    <jats:italic>RET<\/jats:italic>\n                    promoter by 100% in the presence of the wild\u2010type or HSCR\u2010associated\n                    <jats:italic>RET<\/jats:italic>\n                    promoter SNP alleles. The apparent binding affinity of the NKX2\u20131 mutated protein was not decreased. The Met3Leu mutation may affect the interaction of NKX2\u20131 with its protein partners. The absence of\n                    <jats:italic>NKX2\u20101<\/jats:italic>\n                    expression in mouse but not in human gut suggests that the role of NKX2\u20131 in gut development differs between the two species.\n                    <jats:italic>NKX2\u20101<\/jats:italic>\n                    mutations could contribute to HSCR by affecting\n                    <jats:italic>RET<\/jats:italic>\n                    expression through defective interactions with other transcription factors.\n                  <\/jats:p>","DOI":"10.1111\/j.1469-1809.2007.00403.x","type":"journal-article","created":{"date-parts":[[2008,2,5]],"date-time":"2008-02-05T03:33:00Z","timestamp":1202182380000},"page":"170-177","source":"Crossref","is-referenced-by-count":10,"title":["Evaluation of the NK2 Homeobox 1 Gene (\n                    <i>NKX2\u20101<\/i>\n                    ) as a Hirschsprung's Disease Locus \u2028THIS ARTICLE HAS BEEN RETRACTED"],"prefix":"10.1111","volume":"72","author":[{"given":"M.\u2010M.","family":"Garcia\u2010Barcel\u00f3","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. 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