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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

Saadi, Irfan ; Alkuraya, Fowzan S. ; Gisselbrecht, Stephen S. ; Goessling, Wolfram ; Cavallesco, Resy ; Turbe-Doan, Annick ; Petrin, Aline L. ; Harris, James ; Siddiqui, Ursela ; Grix, Arthur W. ; Hove, Hanne D. ; Leboulch, Philippe ; Glover, Thomas W. ; Morton, Cynthia C. ; Richieri-Costa, Antonio ; Murray, Jeffrey C. ; Erickson, Robert P. ; Maas, Richard L.

American journal of human genetics, 2011-07, Vol.89 (1), p.44-55 [Periódico revisado por pares]

United States: Elsevier Inc

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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
Autor: Saadi, Irfan ; Alkuraya, Fowzan S. ; Gisselbrecht, Stephen S. ; Goessling, Wolfram ; Cavallesco, Resy ; Turbe-Doan, Annick ; Petrin, Aline L. ; Harris, James ; Siddiqui, Ursela ; Grix, Arthur W. ; Hove, Hanne D. ; Leboulch, Philippe ; Glover, Thomas W. ; Morton, Cynthia C. ; Richieri-Costa, Antonio ; Murray, Jeffrey C. ; Erickson, Robert P. ; Maas, Richard L.
Assuntos: Actins - genetics ; Animals ; Cell Adhesion ; Cell adhesion & migration ; Cell Line ; Cell Movement - genetics ; Cell Proliferation ; Cleft Palate - genetics ; Cleft Palate - pathology ; Craniofacial Dysostosis - genetics ; Craniofacial Dysostosis - pathology ; Cytoskeletal Proteins - deficiency ; Cytoskeleton ; Danio rerio ; Drosophila ; Drosophila - genetics ; Drosophila - metabolism ; Eye Abnormalities - genetics ; Eye Abnormalities - pathology ; Female ; Gene Expression Regulation, Developmental ; Gene Knockdown Techniques ; Genetic disorders ; Genotype & phenotype ; Humans ; In Situ Hybridization ; Male ; Maxillofacial Abnormalities - genetics ; Maxillofacial Abnormalities - pathology ; Microtubules - genetics ; Microtubules - metabolism ; Mutation ; Phenotype ; Phosphoproteins - deficiency ; Phosphoproteins - genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Signal Transduction ; Tubulin - genetics ; Wnt Proteins - genetics ; Wnt Proteins - metabolism ; Zebrafish - genetics ; Zebrafish - metabolism
É parte de: American journal of human genetics, 2011-07, Vol.89 (1), p.44-55
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These authors contributed equally to this work
Present Address: Department of Anatomy and Cell Biology, The University of Kansas Medical Center, Kansas City, KS 66160, USA
All editorial responsibility for this paper was handled by an associate editor of The Journal
Present Address: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia
Descrição: Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine embryogenesis, Specc1l is expressed in cell populations of the developing facial primordial, which proliferate and fuse to form the face. In zebrafish, knockdown of a SPECC1L homolog produces a faceless phenotype with loss of jaw and facial structures, and knockdown in Drosophila phenocopies mutants in the integrin signaling pathway that exhibit cell-migration and -adhesion defects. Furthermore, in mammalian cells, SPECC1L colocalizes with both tubulin and actin, and its deficiency results in defective actin-cytoskeleton reorganization, as well as abnormal cell adhesion and migration. Collectively, these data demonstrate that SPECC1L functions in actin-cytoskeleton reorganization and is required for proper facial morphogenesis.
Editor: United States: Elsevier Inc
Idioma: Inglês

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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting

United States: Elsevier Inc

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