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Novel rare variations in genes that regulate developmental change in N-methyl-d-aspartate receptor in patients with schizophrenia
Bibliographic Information
- Published
- 2018-02-01
- Resource Type
- journal article
- Rights Information
-
- https://creativecommons.org/licenses/by/4.0
- https://creativecommons.org/licenses/by/4.0
- DOI
-
- 10.1038/hgv.2017.56
- Publisher
- Springer Science and Business Media LLC
Search this article
Description
<jats:title>Abstract</jats:title><jats:p>The mechanism underlying the vulnerability to developing schizophrenia (SCZ) during adolescence remains elusive. Hypofunction of <jats:italic>N</jats:italic>-methyl-<jats:sc>d</jats:sc>-aspartate receptors (NMDARs) has been implicated in the pathophysiology of SCZ. During development, the composition of synaptic NMDARs dramatically changes from NR2B-containing NMDARs to NR2A-containing NMDARs through the phosphorylation of NR2B S1480 or Y1472 by CDK5, CSNK2A1, and EphB2, which plays a pivotal role in the maturation of neural circuits. We hypothesized that the dysregulation of developmental change in NMDARs could be involved in the onset of SCZ. Using next-generation sequencing, we re-sequenced all the coding regions and splice sites of <jats:italic>CDK5</jats:italic>, <jats:italic>CSNK2A1</jats:italic>, and <jats:italic>EphB2</jats:italic> in 474 patients with SCZ and 475 healthy controls. Variants on the database for human control subjects of Japanese origin were removed and all the nonsynonymous and nonsense variants were validated using Sanger sequencing. Four novel variants in <jats:italic>CDK5</jats:italic> were observed in patients with SCZ but were not observed in controls. The total number of variants, however, was not significantly different between the SCZ and control groups (<jats:italic>P</jats:italic>=0.062). In silico analyses predicted P271T to be damaging. Further genetic research using a larger sample is required to examine whether <jats:italic>CDK5</jats:italic> is involved in the pathophysiology of SCZ.</jats:p>
Journal
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- Human Genome Variation
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Human Genome Variation 5 (1), 2018-02-01
Springer Science and Business Media LLC
