Partial rescue of schizophrenia-related phenotypes in young adult Sp4 hypomorphic mice.

ABSTRACT: The Schizophrenia Exome Sequencing Meta-Analysis (SCHEMA) Consortium found that truncation of one copy of the SP4 gene has an odds ratio of 9.37 (3.38-29.7) for schizophrenia (SCZ). Human SP4 gene is also one of the 69 schizophrenia-risk genes prioritized by parallel genome-wide association studies (GWAS) and one of the two schizophrenia-risk genes shared between the SCHEMA and the GWAS, suggesting that more subtle common variants of the SP4 gene with a partial loss-of-function are likely involved in the pathogenesis of schizophrenia in the general population of patients. SP4 may also act as a hub of network in the regulation of many other schizophrenia-risk genes. Sp4 hypomorphic mice that have reduced Sp4 expression recapitulate several behavioral phenotypes related to schizophrenia such

SUBMITTER: Kamp J 

PROVIDER: S-EPMC12560505 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature