| | |  | | | | Record from Web of Science® | | | | | | |
| Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13 |
|
|
| Author(s): McDowell G, Isogai T, Tanigami A, Hazelwood S, Ledbetter D, Polymeropoulos MH, LichterKonecki U, Konecki D, Town MM, VantHoff W, Weissenbach J, Gahl WA |
| Source: BIOCHEMICAL AND MOLECULAR MEDICINE Volume: 58 Issue: 2 Pages: 135-141 Published: AUG 1996 |
| Times Cited: 17 References: 35 |
| Abstract: The cystinosis gene has been reported to reside in a 3.1 cM region of chromosome 17p13 flanked by markers D17S1828 and D17S1798. We created a yeast artificial chromosome (YAC) contig between these markers and report here an integrated genetic and physical map which will aid in the identification of other genes in this area. Using one pertinent YAC clone, 898A10, we identified new polymorphic markers in the cystinosis gene region, One such marker, D17S2167, was localized by radiation hybrid analysis to within 10.2 cR(8000) Of D17S1828, Haplotype analysis in two separate informative families revealed recombination events which placed the cystinosis gene between markers D17S1828 and D17S2167, an area estimated to be 187-510 kb in size, This dramatic narrowing of the cystinosis gene region permits the creation of a P1 or cosmid contig across the area of interest. The ultimate cloning of the cystinosis gene should eventually reveal how a functional lysosomal transport protein is synthesized, targetted, processed, and integrated into the lysosomal membrane. (C) 1996 Academic Press, Inc. |
| Document Type: Article |
| Language: English |
| Reprint Address: McDowell, G (reprint author), NICHHD, SECT HUMAN BIOCHEM GENET, HERITABLE DISORDERS BRANCH, NIH, BETHESDA, MD 20892 USA |
Addresses:
1. FUJISAWA PHARMACEUT CO LTD, TSUKUBA, IBARAKI 30026 JAPAN
2. NIH, DIAGNOST DEV BRANCH, NATL CTR HUMAN GENOME RES, BETHESDA, MD 20892 USA
3. NIH, HOWARD HUGHES MED INST, RES SCHOLAR PROGRAM, BETHESDA, MD 20892 USA
4. NIH, LAB GENET DIS RES, NATL CTR HUMAN GENOME RES, BETHESDA, MD 20892 USA
5. MARSHFIELD MED RES FDN, CTR GENET MED, MOL & CELLULAR BIOL LAB, MARSHFIELD, WI 54449 USA
6. UNIV HEIDELBERG, CHILDRENS HOSP, D-6900 HEIDELBERG, GERMANY
7. UNITED MED & DENT SCH, GUYS HOSP, DIV MED & MOL GENET, LONDON SE1 9RT, ENGLAND
8. INST CHILD HLTH, LONDON WC1N 1EH, ENGLAND
9. GENETHON SA, HUMAN GENOME RES CTR, CNRS, URA 1922, F-91002 EVRY, FRANCE |
| Publisher: ACADEMIC PRESS INC JNL-COMP SUBSCRIPTIONS, 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 |
| Subject Category: Biochemistry & Molecular Biology; Medicine, Research & Experimental |
| IDS Number: VB361 |
| ISSN: 1077-3150 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |