Article
Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations.
Human molecular genetics - 1 Sept 2011
Todeschini Anne-Laure, Dipietromaria Aurélie, L'hôte David, Boucham Fatima Zohra, Georges Adrien B, Pandaranayaka P J Eswari, Krishnaswamy Sankaran, Rivals Isabelle, Bazin Claude, Veitia Reiner A
Abstract excerpt
Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development, lead to the Blepharophimosis Syndrome. Here, we have systematically replaced the amino acids of the helices of the forkhead domain (FHD) of FOXL2 by glycine residues to assess the impact of such substitutions. A number of mutations lead to protein mislocalization, aggregation and to partial or complete loss of...
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