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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

Lookup NU author(s): Simon Carter, Dr Victor Ruiz-Perez, Professor Jonathan Rees, Professor Tom Strachan


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Darier 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 <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 genes.

Publication metadata

Author(s): Monk S, Sakuntabhai A, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL, Katsantoni E, Kodvawala A, Munro CS, Burge S, Larregue M, Nagy G, Rees JL, Lathrop M, Monaco AP, Strachan T, Hovnanian A

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 1998

Volume: 62

Issue: 4

Pages: 890-903

Print publication date: 01/04/1998

Online publication date: 30/10/2007

Acceptance date: 22/01/1998

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Elsevier


DOI: 10.1086/301794

PubMed id: 9529352


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