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dc.contributor.authorKimani, Jane W.
dc.contributor.authorShi, Min
dc.contributor.authorDaack-Hirsch, Sandra
dc.contributor.authorChristensen, Kaare
dc.contributor.authorMoretti-Ferreira, Danilo
dc.contributor.authorMarazita, Mary L.
dc.contributor.authorField, L. Leigh
dc.contributor.authorCanady, John W.
dc.contributor.authorMurray, Jeffrey C.
dc.date.accessioned2014-05-20T13:50:07Z
dc.date.available2014-05-20T13:50:07Z
dc.date.issued2007-12-15
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.32098
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 143A, n. 24, p. 3267-3272, 2007.
dc.identifier.issn1552-4825
dc.identifier.urihttp://hdl.handle.net/11449/17879
dc.description.abstractNonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in orofacial clefts. Our samples consisted of female monozygotic (MZ) twins (n = 8) and sister pairs (n = 152) discordant for nonsyndromic clefting. We measured the XCI pattern in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. Skewing of XCI was defined as the deviation in inactivation pattern from a 50:50 ratio. Our analysis revealed no significant difference in the degree of skewing between twin pairs (P = 0.3). However, borderline significant differences were observed in the sister pairs (P = 0.02), with the cleft lip with cleft palate group showing the most significant result (P=0.01). We did not find evidence for involvement of skewed XCI in the discordance for clefting in our sample of female MZ twins. However, results from the paired sister study suggest the potential contribution of skewed XCI to orofacial clefting, particularly cleft lip and palate. (C) 2007 Wiley-Liss, Inc.en
dc.format.extent3267-3272
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.sourceWeb of Science
dc.subjectcleft palatept
dc.subjectcleft lippt
dc.subjectX inactivationpt
dc.subjectmonozygotic twinspt
dc.subjectdiscordantpt
dc.titleX-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palateen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-Blackwell
dc.contributor.institutionUniv Iowa
dc.contributor.institutionNIEHS
dc.contributor.institutionUniv So Denmark
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniv Pittsburgh
dc.contributor.institutionUniv British Columbia
dc.description.affiliationUniv Iowa, Dept Pediat, Iowa City, IA 52242 USA
dc.description.affiliationNIEHS, Biostat Branch, Res Triangle Pk, NC 27709 USA
dc.description.affiliationUniv So Denmark, Dept Epidemiol, Odense, Denmark
dc.description.affiliationGenet Univ Estadual Paulista, Serv Aconselhamento, Botucatu, SP, Brazil
dc.description.affiliationUniv Pittsburgh, Dept Oral Biol, Ctr Craniofacial & Dent Genet, Pittsburgh, PA USA
dc.description.affiliationUniv Pittsburgh, Dept Human Genet, Pittsburgh, PA USA
dc.description.affiliationUniv British Columbia, Dept Med Genet, Vancouver, BC, Canada
dc.description.affiliationUniv Iowa, Dept Otolaryngol Plast Surg & Orthopedic Surg, Iowa City, IA USA
dc.description.affiliationUnespGenet Univ Estadual Paulista, Serv Aconselhamento, Botucatu, SP, Brazil
dc.identifier.doi10.1002/ajmg.a.32098
dc.identifier.wosWOS:000251405100049
dc.rights.accessRightsAcesso restrito
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt
dc.identifier.orcid0000-0002-9256-7623
unesp.author.orcid0000-0002-9256-7623[5]
unesp.author.orcid0000-0002-5429-5292[4]
unesp.author.orcid0000-0003-1192-7154[3]
dc.relation.ispartofjcr2.264
dc.relation.ispartofsjr1,098
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