| Title |
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
|
|---|---|
| Published in |
Journal of Molecular Medicine, February 2000
|
| DOI | 10.1007/s001090000079 |
| Pubmed ID | |
| Authors |
Li Cai, Berthold Struk, Mark D. Adams, Wan Ji, Thomas Haaf, Hyung-Lyun Kang, So Hee Dho, Xuequn Xu, Franziska Ringpfeil, Julie Nancarrow, Stéphanie Zäch, Lori Schaen, Markus Stumm, Tianhua Niu, Joon Chung, Karsten Lunze, Bradford Verrecchia, Lowell A. Goldsmith, Denis Viljoen, Luis E. Figuera, Wayne Fuchs, Mark Lebwohl, Jouni Uitto, Robert Richards, Daniel Hohl, Raj Ramesar, David F. Callen, Ung-Jin Kim, Norman A. Doggett, Kenneth H. Neldner, Klaus Lindpaintner |
| Abstract |
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. |
Mendeley readers
The data shown below were compiled from readership statistics for 16 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| South Africa | 1 | 6% |
| Australia | 1 | 6% |
| Unknown | 14 | 88% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 19% |
| Student > Ph. D. Student | 3 | 19% |
| Other | 2 | 13% |
| Student > Bachelor | 2 | 13% |
| Professor | 2 | 13% |
| Other | 2 | 13% |
| Unknown | 2 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 38% |
| Medicine and Dentistry | 4 | 25% |
| Biochemistry, Genetics and Molecular Biology | 3 | 19% |
| Unknown | 3 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 29 April 2008.
All research outputs
#7,510,637
of 22,940,083 outputs
Outputs from Journal of Molecular Medicine
#507
of 1,551 outputs
Outputs of similar age
#24,992
of 108,992 outputs
Outputs of similar age from Journal of Molecular Medicine
#5
of 10 outputs
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