Slc6a20a Heterozygous and Homozygous Mutant Mice Display Differential Behavioral and Transcriptomic Changes

Junhyung Kim; Junyeop Daniel Roh; Seongbin Kim; Hyojin Kang; Mihyun Bae; Eunjoon Kim

doi:10.3389/fnmol.2022.857820

Slc6a20a Heterozygous and Homozygous Mutant Mice Display Differential Behavioral and Transcriptomic Changes

Front Mol Neurosci. 2022 Mar 7:15:857820. doi: 10.3389/fnmol.2022.857820. eCollection 2022.

Authors

Junhyung Kim¹, Junyeop Daniel Roh², Seongbin Kim¹, Hyojin Kang³, Mihyun Bae², Eunjoon Kim^{1

2}

Affiliations

¹ Department of Biological Sciences, Korea Advanced Institute for Science and Technology (KAIST), Daejeon, South Korea.
² Center for Synaptic Brain Dysfunctions, Institute for Basic Science (IBS), Daejeon, South Korea.
³ Division of National Supercomputing, Korea Institute of Science and Technology Information (KISTI), Daejeon, South Korea.

Abstract

SLC6A20A is a proline and glycine transporter known to regulate glycine homeostasis and NMDA receptor (NMDAR) function in the brain. A previous study found increases in ambient glycine levels and NMDA receptor-mediated synaptic transmission in the brains of Slc6a20a-haploinsufficient mice, but it remained unknown whether Slc6a20a deficiency leads to disease-related behavioral deficits in mice. Here, we report that Slc6a20a heterozygous and homozygous mutant mice display differential behavioral phenotypes in locomotor, repetitive behavioral, and spatial and fear memory domains. In addition, these mice show differential transcriptomic changes in synapse, ribosome, mitochondria, autism, epilepsy, and neuron-related genes. These results suggest that heterozygous and homozygous Slc6a20a deletions in mice lead to differential changes in behaviors and transcriptomes.

Keywords: NMDA receptors; autism spectrum disorders; epilepsy; glycine and proline transport; learning and memory; mitochondria; ribosomes; synapse.