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PMID:10964473

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Citation

Paine-Saunders, S, Viviano, BL, Zupicich, J, Skarnes, WC and Saunders, S (2000) glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. Dev. Biol. 225:179-87

Abstract

Glypicans represent a family of six cell surface heparan sulfate proteoglycans in vertebrates. Although no specific in vivo functions have thus far been described for these proteoglycans, spontaneous mutations in the human and induced deletions in the mouse glypican-3 (Gpc3) gene result in severe malformations and both pre- and postnatal overgrowth, known clinically as the Simpson-Golabi-Behmel syndrome (SGBS). Mice carrying mutant alleles of Gpc3 created by either targeted gene disruption or gene trapping display a wide range of phenotypes associated with SGBS including renal cystic dysplasia, ventral wall defects, and skeletal abnormalities that are consistent with the pattern of Gpc3 expression in the mouse embryo. Previous studies in Drosophila have implicated glypicans in the signaling of decapentaplegic, a BMP homolog. Our experiments with mice show a significant relationship between vertebrate BMP signaling and glypican function; GPC3-deficient animals were mated with mice haploinsufficient for bone morphogenetic protein-4 (Bmp4) and their offspring displayed a high penetrance of postaxial polydactyly and rib malformations not observed in either parent strain. This previously unknown link between glypican-3 and BMP4 function provides evidence of a role for glypicans in vertebrate limb patterning and skeletal development and suggests a mechanism for the skeletal defects seen in SGBS.

Links

PubMed Online version:10.1006/dbio.2000.9831

Keywords

Animals; Body Patterning/physiology; Bone Development/physiology; Cell Differentiation; Embryonic and Fetal Development; Extremities/embryology; Extremities/physiology; Gene Expression Regulation, Developmental; Glypicans; Heparan Sulfate Proteoglycans/physiology; Humans; Mice; Mice, Inbred C57BL

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:BMP4

involved_in

GO:0009948: anterior/posterior axis specification

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:104903

P

Seeded From UniProt

complete

MOUSE:BMP4

involved_in

GO:0035116: embryonic hindlimb morphogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:104903

P

Seeded From UniProt

complete

MOUSE:GPC3

involved_in

GO:0009948: anterior/posterior axis specification

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:88180

P

Seeded From UniProt

complete

MOUSE:GPC3

involved_in

GO:0035116: embryonic hindlimb morphogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:88180

P

Seeded From UniProt

complete

MOUSE:BMP4

acts_upstream_of_or_within

GO:0009948: anterior/posterior axis specification

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:104903

P

Seeded From UniProt

complete

MOUSE:BMP4

acts_upstream_of_or_within

GO:0035116: embryonic hindlimb morphogenesis

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:104903

P

results_in_development_of:(EMAPA:17458)

Seeded From UniProt

complete


See also

References

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