Abstract
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, GPC3, that spans more than 500 kilobases in Xq26; in three families, different microdeletions encompassing exons cosegregate with SGBS. GPC3 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.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / genetics*
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Amino Acid Sequence
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Animals
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Base Sequence
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Cell Line
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Chromosome Aberrations / genetics*
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Chromosome Disorders
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Chromosome Mapping
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Chromosomes, Human, Pair 1
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Chromosomes, Human, Pair 16
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Cloning, Molecular
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DNA Primers
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Female
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Gene Deletion
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Genetic Linkage
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Glypicans
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Growth Disorders / genetics*
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HeLa Cells
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Heparan Sulfate Proteoglycans*
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Heparitin Sulfate / genetics*
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Heparitin Sulfate / metabolism
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Humans
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Immunologic Techniques
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Insulin-Like Growth Factor II / metabolism
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Male
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Mice
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Molecular Sequence Data
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Pedigree
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Protein Binding
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Proteoglycans / genetics*
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Proteoglycans / metabolism
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Sequence Homology, Amino Acid
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Syndrome
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Translocation, Genetic
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Tumor Cells, Cultured
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X Chromosome*
Substances
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DNA Primers
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Glypicans
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Heparan Sulfate Proteoglycans
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Proteoglycans
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Insulin-Like Growth Factor II
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Heparitin Sulfate
Associated data
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GENBANK/L47124
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GENBANK/L47125
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GENBANK/L77878
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GENBANK/L77879
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GENBANK/L77880
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GENBANK/L77881
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GENBANK/L77882
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GENBANK/L77883