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THE MOUSE SHORT-EAR SKELETAL MORPHOGENESIS LOCUS IS ASSOCIATED WITH DEFECTS IN A BONE MORPHOGENETIC MEMBER OF THE TGF-BETA SUPERFAMILY
Author(s): KINGSLEY DM, BLAND AE, GRUBBER JM, MARKER PC, RUSSELL LB, COPELAND NG, JENKINS NA
Source: CELL    Volume: 71    Issue: 3    Pages: 399-410    Published: OCT 30 1992  
Times Cited: 335     References: 66     
Abstract: The mouse short ear gene is required for normal growth and patterning of skeletal structures, and for repair of bone fractures in adults. We have carried out an extensive chromosome walk in the chromosome region that surrounds this locus. Here we show that the short ear region contains the gene for a TGFbeta-related protein called bone morphogenetic protein 5 (Bmp-5). This gene is deleted or rearranged in several independent mutations at the short ear locus. Mice homozygous for large deletions of the Bmp-5 coding region are viable and fertile. Mutations at the short ear locus provide an important new tool for defining the normal functions of BMPs in mammals. The specific skeletal defects seen in short-eared animals, which occur against a background of otherwise normal skeletal structures, suggest that particular aspects of skeletal morphology may be determined by individual members of a family of signaling factors that can induce the formation of cartilage and bone in vivo.
Document Type: Article
Language: English
Reprint Address: KINGSLEY, DM (reprint author), STANFORD UNIV, MED CTR, SCH MED, DEPT DEV BIOL, BECKMAN CTR B300, STANFORD, CA 94305 USA
Addresses:
1. OAK RIDGE NATL LAB, DIV BIOL, OAK RIDGE, TN 37831 USA
2. NCI, FREDERICK CANC RES & DEV CTR, MAMMALIAN GENET LAB, ABL BASIC RES PROGRAM, FREDERICK, MD 21702 USA
Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138
Subject Category: Biochemistry & Molecular Biology; Cell Biology
IDS Number: JW435
ISSN: 0092-8674
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