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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Content Provider	Springer Nature Link
Author	Walz, Katherina Cohen, Devon Neilsen, Paul M. Foster, Joseph Brancati, Francesco Demir, Korcan Fisher, Richard Moffat, Michelle Verbeek, Nienke E. Bjørgo, Kathrine Lo Castro, Adriana Curatolo, Paolo velli, Giuseppe Abad, Clemer Lei, Cao Zhang, Lily Diaz Horta, Oscar Young, Juan I. Callen, David F. Tekin, Mustafa
Copyright Year	2014
Abstract	Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of wild-type ANKRD11 and the effects of mutations in humans and mice. We show that the abundance of wild-type ANKRD11 is tightly regulated during the cell cycle, and that the ANKRD11 C-terminus is required for the degradation of the protein. Analysis of 11 pathogenic ANKRD11 variants in humans, including six reported in this study, and one reported in the Ankrd11 Yod/+ mouse, shows that all mutations affect the C-terminal regions and that the mutant proteins accumulate aberrantly. In silico analysis shows the presence of D-box sequences that are signals for proteasome degradation. We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
Starting Page	181
Ending Page	190
Page Count	10
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	134
Issue Number	2
e-ISSN	14321203
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2014-11-21
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome