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

被引：54

作者：

Cai, L

Struk, B

Adams, MD

Ji, W

Haaf, T

Kang, HL

Dho, SH

Xu, XQ

Ringpfeil, F

Nancarrow, J

Zäch, S

Schaen, L

Stumm, M

Niu, TH

Chung, J

Lunze, K

Verrecchia, B

Goldsmith, LA

Viljoen, D

Figuera, LE

Fuchs, W

Lebwohl, M

Uitto, J

Richards, R

Hohl, D

Ramesar, R

Callen, DF

Kim, UJ

Doggett, NA

Neldner, KH

Lindpainter, K

机构：

[1] Brigham & Womens Hosp, Childrens Hosp, Dept Cardiol,Cardiovasc Div, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Dept Cardiol, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Dept Med, Boston, MA 02115 USA

[4] Texas Tech Univ, Hlth Sci Ctr, Dept Dermatol, Lubbock, TX 79430 USA

[5] Inst Genom Res, Rockville, MD 20850 USA

[6] CALTECH, Div Biol, Caltech Genome Res Lab, Pasadena, CA 91125 USA

[7] Univ Calif Los Alamos Natl Lab, Div Life Sci, Los Alamos, NM 87545 USA

[8] Univ Calif Los Alamos Natl Lab, Ctr Human Genome Studies, Los Alamos, NM 87545 USA

[9] Womens & Childrens Hosp, Dept Cytogenet & Mol Genet, Adelaide, SA 5006, Australia

[10] Thomas Jefferson Univ, Jefferson Med Coll, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19107 USA

[11] CUNY Mt Sinai Sch Med, Dept Dermatol, New York, NY 10029 USA

[12] Univ Cape Town, Sch Med, Dept Human Genet, ZA-7925 Cape Town, South Africa

[13] CUNY Mt Sinai Sch Med, Dept Ophthalmol, New York, NY 10029 USA

[14] Univ Lausanne, Dept Dermatol, CH-1011 Lausanne, Switzerland

[15] Univ Rochester, Dept Dermatol, Rochester, NY 14642 USA

[16] Univ Guadalajara, Sch Med, CIBO IMSS, Div Genet, Guadalajara 44430, Jalisco, Mexico

[17] Univ Guadalajara, Sch Med, CIBO IMSS, Dept Mol Med, Guadalajara 44430, Jalisco, Mexico

[18] S African Inst Med Res, Johannesburg, South Africa

[19] Max Planck Inst Mol Genet, Berlin, Germany

[20] Otto Von Guericke Univ, Inst Human Genet, Magdeburg, Germany

[21] Celera Genom, Rockville, MD 20850 USA

[22] Max Delbruck Ctr Mol Med, D-13122 Berlin, Germany

[23] F Hoffmann La Roche Ltd, Roche Genet, Div Pharmaceut, CH-4070 Basel, Switzerland

来源：

JOURNAL OF MOLECULAR MEDICINE-JMM | 2000年 / 78卷 / 01期

关键词：

pseudoxanthoma elasticum; genetic mapping; physical mapping; BAC contigs; YAC contigs;

D O I：

10.1007/s001090000079

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 16p13.1. 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 PKD1) 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.

引用

页码：36 / 46

页数：11

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