Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses

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...

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Published in:Human molecular genetics 1996-10, Vol.5 (10), p.1547-1557
Main Authors: Wuyts, Wim, Van Hul, Wim, Wauters, Jan, Nemtsova, Marina, Reyniers, Edwin, Van Hul, Els, De Boulle, Kristel, de Vries, Bert B. A., Hendrickx, Jan, Herrygers, Ilde, Bossuyt, Paul, Balemans, Wendy, Fransen, Erik, Vits, Lieve, Coucke, Paul, Nowak, Norma J., Shows, Thomas B., Mallet, Laurence, van den Ouweland, Ans M. W., McGaughran, Julie, Halley, Dicky J. J., Willems, Patrick J.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 8
Cloning, Molecular
DNA, Complementary - analysis
DNA, Complementary - genetics
Exostoses, Multiple Hereditary - genetics
Humans
Molecular Sequence Data
Sequence Alignment
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Summary: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.
ISSN:0964-6906
1460-2083
1460-2083
DOI:10.1093/hmg/5.10.1547