| | |  | | | | Record from Web of Science® | | | | | | |
| CLONING OF THE PUTATIVE TUMOR-SUPPRESSOR GENE FOR HEREDITARY MULTIPLE EXOSTOSES (EXT1) |
|
|
| Author(s): AHN J, JOSEFLUDECKE H, LINDOW S, HORTON WA, LEE B, WAGNER MJ, HORSTHEMKE B, WELLS DE |
| Source: NATURE GENETICS Volume: 11 Issue: 2 Pages: 137-143 Published: OCT 1995 |
| Times Cited: 212 References: 29 |
| Abstract: Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints previously identified in two multiple exostoses patients. Furthermore, the gene harbours frameshift mutations in affected members of two EXT1 families. The cDNA has a coding region of 2,238 bp with no apparent homology to other known gene sequences and thus its function remains elusive. However, recent studies in sporadic and exostosis-derived chondrosarcomas suggest that the 8q24.1-encoded EXT1 gene may have tumour suppressor function. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV ESSEN GESAMTHSCH KLINIKUM, INST HUMANGENET, D-45122 ESSEN, GERMANY
2. UNIV HOUSTON, DEPT BIOL, HOUSTON, TX 77204 USA
3. UNIV HOUSTON, INST MOLEC BIOL, HOUSTON, TX 77204 USA
4. SHRINERS HOSP CRIPPLED CHILDRENS, PORTLAND, OR 97201 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: RX806 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |