A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus : high-resolution mapping and genomic structure

We have recently mapped the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and cardiovascular system, to chromosome 16p 13.1. Here we report further data on the fine-mapping and genomic struct...

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Bibliographic Details
Published in:Journal of molecular medicine (Berlin, Germany) Germany), 2000, Vol.78 (1), p.36-46
Main Authors: LI CAI, STRUK, B, ZÄCH, S, SCHAEN, L, STUMM, M, TIANHUA NIU, JOON CHUNG, LUNZE, K, VERRECCHIA, B, GOLDSMITH, L. A, VILJOEN, D, FIGUERA, L. E, ADAMS, M. D, FUCHS, W, LEBWOHL, M, UITTO, J, RICHARDS, R, HOHL, D, RAMESAR, R, CALLEN, D. F, KIM, U.-J, DOGGETT, N. A, NELDNER, K. H, WAN JI, LINDPAINTNER, K, HAAF, T, KANG, H.-L, SO HEE DHO, XUEQUN XU, RINGPFEIL, F, NANCARROW, J
Format: Article
Language:English
Subjects:
Adult
Animals
Biological and medical sciences
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 16
Genotype
Haplotypes
Humans
Medical sciences
Mice
Microsatellite Repeats
Pedigree
Physical Chromosome Mapping
Polymerase Chain Reaction
Pseudoxanthoma Elasticum - genetics
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
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Summary:We have recently mapped the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and cardiovascular system, to chromosome 16p 13.1. Here we report further data on the fine-mapping and genomic structure of this locus. Haplotype analysis of informative PXE families narrowed the locus to an interval of less than 500 kb located between markers D16B9621 and D16S764. Three overlapping YAC clones were found to cover this region through YAC-STS content mapping. An overlapping BAC contig was then constructed to cover this interval and the surrounding region. About 80% of this chromosomal region has been fully sequenced using the BAC shotgun technique. Gene content and sequence analysis predicted four genes (MRP1, MRP6, PM5, and a novel transcript) and two pseudogenes (ARA and PKDI) within this interval. By screening a somatic cell hybrid panel we were able to precision-map the breakpoint of Cy185 and the starting point of a chromosomal duplication within 20 kb of BAC A962B4. The present data further refine the localization of PXE, provide additional physical cloning resources, and will aid in the eventual identification of the genetic defect causing PXE.
ISSN:0946-2716
1432-1440
DOI:10.1007/s001090000079