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TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.
Shylo, Natalia A; Christopher, Kasey J; Iglesias, Alejandro; Daluiski, Aaron; Weatherbee, Scott D.
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  • Shylo NA; Department of Genetics, Yale University, School of Medicine, P.O. Box 208005, SHM I-142D, 333 Cedar Street, New Haven, CT, 06520.
  • Christopher KJ; Department of Genetics, Yale University, School of Medicine, P.O. Box 208005, SHM I-142D, 333 Cedar Street, New Haven, CT, 06520.
  • Iglesias A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.
  • Daluiski A; Department of Hand and Upper Extremity Surgery, Hospital for Special Surgery, New York, New York.
  • Weatherbee SD; Department of Genetics, Yale University, School of Medicine, P.O. Box 208005, SHM I-142D, 333 Cedar Street, New Haven, CT, 06520.
Hum Mutat ; 37(2): 155-9, 2016 Feb.
Article en En | MEDLINE | ID: mdl-26518474
The proximate causes of multiple human genetic syndromes (ciliopathies) are disruptions in the formation or function of the cilium, an organelle required for a multitude of developmental processes. We previously identified Tmem107 as a critical regulator of cilia formation and embryonic organ development in the mouse. Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital syndrome (OFD), and show that the OFD patient shares several morphological features with the Tmem107 mutant mouse including polydactyly and reduced numbers of ciliated cells. We show that TMEM107 appears to function within cilia to regulate protein content, as key ciliary proteins do not localize normally in cilia derived from the Tmem107 mouse mutant and the human patient. These data indicate that TMEM107 plays a key, conserved role in regulating ciliary protein composition, and is a novel candidate for ciliopathies of unknown etiology.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Orofaciodigitales / Cilios / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Child, preschool / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Orofaciodigitales / Cilios / Proteínas de la Membrana / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Child, preschool / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos