{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T21:46:30Z","timestamp":1715982390940},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,5,1]],"date-time":"2002-05-01T00:00:00Z","timestamp":1020211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Deletion of the murine X\u2010linked <jats:italic>Nap1l2<\/jats:italic> gene causes lethality from midgestation onwards. The affected embryos exhibit neural tube defects (NTDs) closely resembling spina bifida and anencephaly in humans. X\u2010linked familial and spontaneous cases of NTD were analyzed for sequence alterations in the human <jats:italic>NAP1L2<\/jats:italic>. No differences were found in the familial cases. However, a number of single nucleotide polymorphisms (SNPs) within the 5\u2032 region of <jats:italic>NAP1L2<\/jats:italic> were identified both in cases of spontaneous NTD and in normal controls. Most of these SNPs lead to the replacement of guanidines or cytosines within a CpG island that is conserved between the human and the mouse promoter regions. Demethylation in vitro activates <jats:italic>Nap1l2<\/jats:italic> transcriptional activity, suggesting the importance of the CpG island in regulating the activity of the <jats:italic>Nap1l2\/NAP1L2<\/jats:italic> genes, and the potential importance of the polymorphisms in modifying their transcriptional activity. <jats:italic>NAP1L2\/Nap1l2<\/jats:italic> expression may therefore depend on the genetic\u2010environmental factors that are frequently associated with NTDs. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10453","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:29:56Z","timestamp":1033907396000},"page":"208-214","source":"Crossref","is-referenced-by-count":12,"title":["SNPs in the CpG island of <i>NAP1L2<\/i>: A possible link between DNA methylation and neural tube defects?"],"prefix":"10.1002","volume":"110","author":[{"given":"Ute 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