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Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.
Mukherjee, Kusumika; Ishii, Kana; Pillalamarri, Vamsee; Kammin, Tammy; Atkin, Joan F; Hickey, Scott E; Xi, Qiongchao J; Zepeda, Cinthya J; Gusella, James F; Talkowski, Michael E; Morton, Cynthia C; Maas, Richard L; Liao, Eric C.
Afiliación
  • Mukherjee K; Center for Regenerative Medicine, Division of Plastic and Reconstructive Surgery, Harvard Medical School, Harvard University, Boston, MA 02114, USA.
  • Ishii K; Center for Regenerative Medicine, Division of Plastic and Reconstructive Surgery, Department of Biochemistry and Molecular Biology, Nippon Medical School, Bunkyo, Tokyo 113-0022, Japan, Harvard Medical School, Harvard University, Boston, MA 02114, USA.
  • Pillalamarri V; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Kammin T; Department of Obstetrics, Gynecology and Reproductive Biology.
  • Atkin JF; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA, Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA, Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH 43205, USA.
  • Xi QJ; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA, Harvard Medical School, Harvard University, Boston, MA 02114, USA.
  • Zepeda CJ; Department of Obstetrics, Gynecology and Reproductive Biology.
  • Gusella JF; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA, Harvard Medical School, Harvard University, Boston, MA 02114, USA.
  • Talkowski ME; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA and Harvard Medical School, Harvard University, Boston, MA 02114, USA.
  • Morton CC; Department of Obstetrics, Gynecology and Reproductive Biology, Department of Pathology and Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA and Harvard Medical School, Harvard University, Boston, MA 02114, USA.
  • Maas RL; Department of Medicine, Division of Genetics, Brigham and Women's Hospital, Boston, MA 02115, USA, Harvard Medical School, Harvard University, Boston, MA 02114, USA.
  • Liao EC; Center for Regenerative Medicine, Division of Plastic and Reconstructive Surgery, Harvard Medical School, Harvard University, Boston, MA 02114, USA cliao@partners.org.
Hum Mol Genet ; 25(7): 1255-70, 2016 Apr 01.
Article en En | MEDLINE | ID: mdl-26758871
ABSTRACT
CAPZB is an actin-capping protein that caps the growing end of F-actin and modulates the cytoskeleton and tethers actin filaments to the Z-line of the sarcomere in muscles. Whole-genome sequencing was performed on a subject with micrognathia, cleft palate and hypotonia that harbored a de novo, balanced chromosomal translocation that disrupts the CAPZB gene. The function of capzb was analyzed in the zebrafish model. capzb(-/-) mutants exhibit both craniofacial and muscle defects that recapitulate the phenotypes observed in the human subject. Loss of capzb affects cell morphology, differentiation and neural crest migration. Differentiation of both myogenic stem cells and neural crest cells requires capzb. During palate morphogenesis, defective cranial neural crest cell migration in capzb(-/-) mutants results in loss of the median cell population, creating a cleft phenotype. capzb is also required for trunk neural crest migration, as evident from melanophores disorganization in capzb(-/-) mutants. In addition, capzb over-expression results in embryonic lethality. Therefore, proper capzb dosage is important during embryogenesis, and regulates both cell behavior and tissue morphogenesis.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diferenciación Celular / Proteína CapZ / Cabeza / Morfogénesis / Cresta Neural Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Infant Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diferenciación Celular / Proteína CapZ / Cabeza / Morfogénesis / Cresta Neural Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Infant Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos