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Does APC/C CDH1 control the human brain size?
Author(s) -
Dohrn Maike F.,
Bolaños Juan P.
Publication year - 2019
Publication title -
journal of neurochemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.75
H-Index - 229
eISSN - 1471-4159
pISSN - 0022-3042
DOI - 10.1111/jnc.14835
Subject(s) - ubiquitin ligase , cdh1 , missense mutation , biology , genetics , neuroscience , mutation , ubiquitin , gene , cadherin , cell
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.