Schizophrenia-risk gene haploinsufficiency leads to cognitive and  behavioral impairments

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Schizophrenia-risk gene haploinsufficiency leads to cognitive and  behavioral impairments

Recent studies have shown that protein-truncating variants of exportin 7 (XPO7) can increase the risk of schizophrenia.

The researchers generated mice with Xpo7 haploinsufficiency and showed the impairments in cognitive and social behavior in the mice.

They also demonstrate a total of 45 molecules including CutC, Rbfox3, and Gria3 interact with Xpo7 and are affected by Xpo7 haploinsufficiency.

The authors  used single-nucleus RNA sequencing analysis and revealed an overlap between the molecules affected by Xpo7 haploinsufficiency and the high-risk genes associated with schizophrenia and identify 15 gene expression changes in the frontal cortex correlating with the progressive stages of Xpo7 haploinsufficiency in mice.

https://www.embopress.org/doi/full/10.1038/s44319-024-00362-9

https://sciencemission.com/Xpo7-haploinsufficiency