TY - JOUR
T1 - 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
AU - Monk, S.
AU - Sakuntabhai, A.
AU - Cox, R.
AU - Harrington, L.
AU - Levy, E.
AU - Lathrop, M.
AU - Monaco, A.P.
AU - Hovnanian, A.
AU - Burge, S.
AU - Carter, S.A.
AU - Bryce, S.D.
AU - Ruiz-Perez, V.L.
AU - Katsantoni, E.
AU - Kodvawala, A.
AU - Strachan, T.
AU - Rees, J.L.
AU - Munro, C.S.
AU - Larrègue, M.
AU - Nagy, G.
N1 - Medline is the source for the MeSH terms of this document.
PY - 1998/4
Y1 - 1998/4
N2 - 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 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
AB - 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 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
UR - http://www.scopus.com/inward/record.url?scp=17344369623&partnerID=8YFLogxK
U2 - 10.1086/301794
DO - 10.1086/301794
M3 - Article
AN - SCOPUS:17344369623
SN - 0002-9297
VL - 62
SP - 890
EP - 903
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -