, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
摘要：
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked condition characterized by pre-and postnatal overgrowth with visceral and skeletal anomalies. To identify the causative gene, breakpoints in two female patients with X;autosome translocations were identified. The breakpoints occur near the 5′, and 3′, ends of a gene,, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS.encodes a putative extracellular proteoglycan, glypican 3, that is inferred to play an important role in growth control in embryonic mesodermal tissues in which it is selectively expressed. Initial western- and ligand-blotting experiments suggest that glypican 3 forms a complex with insulin-like growth factor 2 (IGF2), and might thereby modulate IGF2 action.
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关键词：
Animals Humans Mice Cell Line Hela Cells Tumor Cells, Cultured Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 X Chromosome Chromosome Aberrations
DOI：
10.1038/ng0396-241
被引量：
BMJ
Nature
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Nature
Wiley
万方医学
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