Positional cloning of a gene involved in hereditary multiple exostoses |
| |
Authors: | Wuyts W; Van Hul W; Wauters J; Nemtsova M; Reyniers E; Van Hul EV; De Boulle K; de Vries BB; Hendrickx J; Herrygers I; Bossuyt P; Balemans W; Fransen E; Vits L; Coucke P; Nowak NJ; Shows TB; Mallet L; van den Ouweland AM; McGaughran J; Halley DJ; Willems PJ |
| |
Institution: | Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. |
| |
Abstract: | Hereditary multiple exostosis (EXT) is an autosomal dominant condition
mainly characterized by the presence of multiple exostoses on the long
bones. These exostoses are benign cartilaginous tumors (enchondromata).
Three different EXT loci on chromosomes 8q (EXT1), 11p (EXT2) and 19p
(EXT3) have been reported, and recently the EXT1 gene was identified by
positional cloning. To isolate the EXT2 gene, we constructed a contig of
yeast artificial chromosomes (YAC) and P1 clones covering the complete EXT2
candidate region on chromosome 11p11-p12. One of the transcribed sequences
isolated from this region corresponds to a novel gene with homology to the
EXT1 gene, and harbours inactivating mutations in different patients with
hereditary multiple exostoses. This indicates that this gene is the EXT2
gene. EXT2 has an open reading frame encoding 718 amino acids with an
overall homology of 30.9% with EXT1, suggesting that a family of related
genes might be responsible for the development of EXT.
|
| |
Keywords: | |
本文献已被 Oxford 等数据库收录! |
|