Does APC/CCDH1 control the human brain size?: An Editorial Highlight for 'A novel human Cdh1 mutation impairs anaphase‐promoting complex/cyclosome (APC/C) activity resulting in microcephaly, psychomotor retardation, and epilepsy' on page 103. Issue 1 (23rd August 2019)

• Record Type: Journal Article
• Authors: Dohrn, Maike F.; Bolaños, Juan P.
• Is Part Of: Journal of neurochemistry. Volume 151:Issue 1(2019)
• Page Start: 8
• Page End: 10
• Publication Date: 2019-08-23
• Subjects: Neurochemistry -- Periodicals; 616.8042
• DOI: 10.1111/jnc.14835
• Languages: English
• ISSNs: 0022-3042

Abstract

Abstract: This editorial highlights a study by Rodriguez, Sanchez‐Moran et al. (2019) in the current issue of the Journal of Neurochemistry, in which the authors describe a microcephalic boy carrying the novel heterozygous de novo missense mutation c.560A> G; p.Asp187Gly in Cdh1/Fzr1 encoding the APC/C E3‐ubiquitin ligase cofactor CDH1. A functional characterization of mutant APC/C CDH1 confirms an aberrant division of neural progenitor cells, a condition known to determine the mouse brain cortex size. These data suggest that APC/C CDH1 may contribute to the regulation of the human brain size. Abstract : This editorial highlights a study by Rodriguez, Sanchez‐Moran et al. (2019) in the current issue of the Journal of Neurochemistry, in which the authors describe a microcephalic boy carrying the novel heterozygous de novo missense mutation c.560A>G; p.Asp187Gly in Cdh1/Fzr1 encoding the APC/C E3‐ubiquitin ligase cofactor CDH1. The mutation causes a substantial loss of anaphase‐promoting complex/cyclosome (APC/C) activity resulting in replicative stress of neural progenitor cells (NPCs) leading to impaired neurogenesis during the embryonic stage. Based on the patient's phenotype, one can further hypothesize that this mutation leads to an antenatally reduced size of brain cortex (microcephaly).