A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness.
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ABSTRACT:
SUBMITTER: Russell TA
PROVIDER: S-EPMC4166532 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
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A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness.
Russell Theron A TA Blizinsky Katherine D KD Cobia Derin J DJ Cahill Michael E ME Xie Zhong Z Sweet Robert A RA Duan Jubao J Gejman Pablo V PV Wang Lei L Csernansky John G JG Penzes Peter P
Nature communications 20140916
Dendritic spine pathology is a key feature of several neuropsychiatric disorders. The Rac1 guanine nucleotide exchange factor kalirin-7 is critical for spine morphogenesis on cortical pyramidal neurons. Here we identify a rare coding variant in the KALRN gene region that encodes the catalytic domain, in a schizophrenia patient and his sibling with major depressive disorder. The D1338N substitution significantly diminished the protein's ability to catalyse the activation of Rac1. Contrary to wild ...[more]
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