Browse by author
Lookup NU author(s): Simon Carter, Dr Victor Ruiz-Perez, Professor Jonathan Rees, Professor Tom Strachan
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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.
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
URL: http://dx.doi.org/10.1086/301794
DOI: 10.1086/301794
PubMed id: 9529352
Altmetrics provided by Altmetric
