Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

• Published in: American journal of human genetics Vol. 88; no. 5; pp. 574 - 585
• Main Authors: Southgate, Laura, Machado, Rajiv D., Snape, Katie M., Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M., Branney, Peter A., Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie, Trembath, Richard C.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 13.05.2011; Cell Press; Elsevier
• Subjects: Actins - metabolism; Biological and medical sciences; cdc42 GTP-Binding Protein - metabolism; Cell Adhesion; Cell cycle; Cell Movement; Cell Polarity; Cell Proliferation; Chromosome Mapping; Congenital diseases; Cytoskeleton; Cytoskeleton - metabolism; Dermatology; DNA Mutational Analysis; Ectodermal Dysplasia - embryology; Ectodermal Dysplasia - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Expression Regulation; Gene loci; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Genomes; GTPase-Activating Proteins - genetics; HEK293 Cells; HeLa Cells; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Humans; Limb Deformities, Congenital - embryology; Limb Deformities, Congenital - genetics; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation; rac1 GTP-Binding Protein - metabolism; Rodents; Scalp Dermatoses - congenital; Scalp Dermatoses - embryology; Scalp Dermatoses - genetics; Signal Transduction; Human; Skin disease; Enzyme; Triphosphoric monoester hydrolases; dGTPase; Esterases; Regulator; Congenital disease; Aplasia cutis; Malformation; Limb; Hydrolases; Genetics; Anomaly; Mutation

Regulation of cell proliferation and motility is essential for normal development. The Rho family of GTPases plays a critical role in the control of cell polarity and migration by effecting the cytoskeleton, membrane trafficking, and cell adhesion. We investigated a recognized developmental disorder...