Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Détails

ID Serval
serval:BIB_42D3941EAAC8
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Périodique
Nature Genetics
Auteur(s)
Krakow  D., Robertson  S. P., King  L. M., Morgan  T., Sebald  E. T., Bertolotto  C., Wachsmann-Hogiu  S., Acuna  D., Shapiro  S. S., Takafuta  T., Aftimos  S., Kim  C. A., Firth  H., Steiner  C. E., Cormier-Daire  V., Superti-Furga  A., Bonafe  L., Graham, J. M., Jr. , Grix  A., Bacino  C. A., Allanson  J., Bialer  M. G., Lachman  R. S., Rimoin  D. L., Cohn  D. H.
ISSN
1061-4036
Statut éditorial
Publié
Date de publication
04/2004
Peer-reviewed
Oui
Volume
36
Numéro
4
Pages
405-10
Notes
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S. --- Old month value: Apr
Résumé
The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell membrane to the cytoskeleton and serving as scaffolds on which intracellular signaling and protein trafficking pathways are organized (reviewed in refs. 1,2). We identified mutations in the gene encoding filamin B in four human skeletal disorders. We found homozygosity or compound heterozygosity with respect to stop-codon mutations in autosomal recessive spondylocarpotarsal syndrome (SCT, OMIM 272460) and missense mutations in individuals with autosomal dominant Larsen syndrome (OMIM 150250) and the perinatal lethal atelosteogenesis I and III phenotypes (AOI, OMIM 108720; AOIII, OMIM 108721). We found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse. These data indicate an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein.
Mots-clé
Codon, Terminator Contractile Proteins/*genetics Fluorescent Antibody Technique Heterozygote Homozygote Joints/*growth & development Microfilament Proteins/*genetics Pedigree *Point Mutation Protein Transport Signal Transduction Spine/*growth & development
Pubmed
Web of science
Open Access
Oui
Création de la notice
21/01/2008 13:50
Dernière modification de la notice
08/05/2019 17:45
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