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dc.contributor.authorMonk, S.
dc.contributor.authorSakuntabhai, A.
dc.contributor.authorCox, R.
dc.contributor.authorHarrington, L.
dc.contributor.authorLevy, E.
dc.contributor.authorLathrop, M.
dc.contributor.authorMonaco, A.P.
dc.contributor.authorHovnanian, A.
dc.contributor.authorBurge, S.
dc.contributor.authorCarter, S.A.
dc.contributor.authorBryce, S.D.
dc.contributor.authorRuiz-Perez, V.L.
dc.contributor.authorKatsantoni, E.
dc.contributor.authorKodvawala, A.
dc.contributor.authorStrachan, T.
dc.contributor.authorRees, J.L.
dc.contributor.authorMunro, C.S.
dc.contributor.authorLarrègue, M.
dc.contributor.authorNagy, G.
dc.date.accessioned2013-07-25T13:02:44Z
dc.date.available2013-07-25T13:02:44Z
dc.date.issued1998-04
dc.identifier.citationMonk , S , Sakuntabhai , A , Cox , R , Harrington , L , Levy , E , Lathrop , M , Monaco , A P , Hovnanian , A , Burge , S , Carter , S A , Bryce , S D , Ruiz-Perez , V L , Katsantoni , E , Kodvawala , A , Strachan , T , Rees , J L , Munro , C S , Larrègue , M & Nagy , G 1998 , ' Refined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig of the Critical Region ' , American Journal of Human Genetics , vol. 62 , no. 4 , pp. 890-903 . https://doi.org/10.1086/301794
dc.identifier.issn0002-9297
dc.identifier.otherPURE: 1746707
dc.identifier.otherPURE UUID: 9e71cc8b-6322-4815-b4a8-4e689926c29f
dc.identifier.otherScopus: 17344369623
dc.identifier.urihttp://hdl.handle.net/2299/11187
dc.descriptionMedline is the source for the MeSH terms of this document.
dc.description.abstractDarier disease (DD) (MIM 124200) is an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and by abnormal keratinization. We present linkage analysis showing, in four families, key recombination events that refine the location of the DD locus on chromosome 12q23-24.1 to a region of of <1 cM. We have constructed a YAC/P1 artificial chromosome (PAC)/bacterial artificial chromosome (BAC)–based physical map that encompasses this refined DD region. The map consists of 35 YAC, 69 PAC, 16 BAC, and 2 cosmid clones that were ordered by mapping 54 anonymous sequence-tagged sites. The critical region is estimated to be 2.4 Mb in size, with an average marker resolution of 37.5 kb. The refinement of the critical interval excludes the ALDH2, RPL6, PTPN11, and OAS genes, as well as seven expressed sequence tags (ESTs) previously mapped in the DD region. The three known genes (ATP2A2, PPP1CC, and SCA2) and the 10 ESTs mapped within the critical region are not obvious candidates for the DD gene. Therefore, this detailed integrated physical, genetic, and partial transcript map provides an important resource for the isolation of the DD gene and, possibly, other disease genesen
dc.format.extent14
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Human Genetics
dc.titleRefined Genetic Mapping of the Darier Locus to a <1-cM Region of Chromosome 12q24.1, and Construction of a Complete, High-Resolution P1 Artificial Chromosome/Bacterial Artificial Chromosome Contig of the Critical Regionen
dc.contributor.institutionSchool of Life and Medical Sciences
dc.contributor.institutionHealth & Human Sciences Research Institute
dc.contributor.institutionDepartment of Human and Environmental Sciences
dc.description.statusPeer reviewed
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=17344369623&partnerID=8YFLogxK
dc.relation.schoolSchool of Life and Medical Sciences
dcterms.dateAccepted1998-04
rioxxterms.versionofrecordhttps://doi.org/10.1086/301794
rioxxterms.typeJournal Article/Review
herts.preservation.rarelyaccessedtrue


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