title: Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.
abstract: We have performed linkage analysis on 21 families with pseudoxanthoma elasticum (PXE) using 10 polymorphic markers located on chromosome 16p13.1. The gene responsible for the PXE phenotype was localized to an 8-cM region of 16p13.1 between markers D16S500 and D16S3041 with a maximum lod score of 8.1 at a recombination fraction of 0.04 for marker D16S3017. The lack of any locus heterogeneity suggests that the major predisposing allele for the PXE phenotype is located in this region. Haplotype studies of a total of 36 PXE families identified several recombinations that further confined the PXE gene to a region (< 1 cM) between markers D16S3060 and D16S79. This PXE locus was identified within a single YAC clone and several overlapping BAC recombinants. From sequence analysis of these BAC recombinants, it is clear that the distance between markers D16S3060 and D16S79 is about 820 kb and contains a total of nine genes including three pseudogenes. We predict that mutations in one of the expressed genes in the locus will be responsible for the PXE phenotype in these families.
authors.affiliation: Pacific Biomedical Research Center, University of Hawaii at Manoa, Honolulu, Hawaii 96822, USA.
authors.forename: O
authors.initials: O
authors.lastname: Le Saux
authors.forename: Z
authors.initials: Z
authors.lastname: Urban
authors.forename: H H
authors.initials: HH
authors.lastname: Göring
authors.forename: K
authors.initials: K
authors.lastname: Csiszar
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
authors.forename: A
authors.initials: A
authors.lastname: Richards
authors.forename: I
authors.initials: I
authors.lastname: Pasquali-Ronchetti
authors.forename: S
authors.initials: S
authors.lastname: Terry
authors.forename: L
authors.initials: L
authors.lastname: Bercovitch
authors.forename: M G
authors.initials: MG
authors.lastname: Lebwohl
authors.forename: M
authors.initials: M
authors.lastname: Breuning
authors.forename: P
authors.initials: P
authors.lastname: van den Berg
authors.forename: L
authors.initials: L
authors.lastname: Kornet
authors.forename: N
authors.initials: N
authors.lastname: Doggett
authors.forename: J
authors.initials: J
authors.lastname: Ott
authors.forename: P T
authors.initials: PT
authors.lastname: de Jong
authors.forename: A A
authors.initials: AA
authors.lastname: Bergen
authors.forename: C D
authors.initials: CD
authors.lastname: Boyd
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003434:Crossing Over, Genetic; D005260:Female; D005796:Genes; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D011544:Pseudogenes; D011561:Pseudoxanthoma Elasticum / Q000235:genetics*