Frmpd3-KO Mouse

FRMPD3, encoding FERM and PDZ domain containing 3, is likely involved in various biological processes. However, its exact function, associated pathways, and overall biological importance are yet to be fully elucidated. Genetic models such as KO/CKO mouse models could potentially shed more light on its role.

A study on major depressive disorder (MDD) identified FRMPD3 as a novel gene carrying rare variants that may contribute significantly to MDD, with a mild penetration effect [1]. In lion head geese, the expression of FRMPD3 in the high egg production population was very significantly lower than that in the low egg production population, suggesting its potential role in egg production [2]. Additionally, genome sequencing in a Qatari cohort with autism spectrum disorder (ASD) discovered single nucleotide variants in FRMPD3, indicating it as a novel candidate risk gene for ASD [3]. In endometrial carcinoma, FRMPD3 was part of a nine-gene risk signature related to the stemness index, which could accurately predict patient prognosis [4].

In conclusion, FRMPD3 appears to play roles in multiple biological processes and disease conditions including MDD, egg production in geese, ASD, and endometrial carcinoma. These findings from various studies contribute to understanding its significance in different biological contexts, though further in-vivo studies like those using KO/CKO mouse models are needed to fully clarify its functions.

References:

1. Oh, Eun-Young, Han, Kyu-Man, Kim, Aram, Han, Mi-Ryung, Ham, Byung-Joo. 2024. Integration of whole-exome sequencing and structural neuroimaging analysis in major depressive disorder: a joint study. In Translational psychiatry, 14, 141. doi:10.1038/s41398-024-02849-4. https://pubmed.ncbi.nlm.nih.gov/38461185/

2. Zhao, Qiqi, Chen, Junpeng, Zhang, Xinheng, Lin, Wencheng, Xie, Qingmei. 2020. Genome-Wide Association Analysis Reveals Key Genes Responsible for Egg Production of Lion Head Goose. In Frontiers in genetics, 10, 1391. doi:10.3389/fgene.2019.01391. https://pubmed.ncbi.nlm.nih.gov/32047514/

3. Ben-Mahmoud, Afif, Gupta, Vijay, Abdelaleem, Alice, Stanton, Lawrence W, Kim, Hyung-Goo. 2024. Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort. In International journal of molecular sciences, 25, . doi:10.3390/ijms252111551. https://pubmed.ncbi.nlm.nih.gov/39519104/

4. Xu, Haoya, Zou, Ruoyao, Liu, Jiyu, Zhu, Liancheng. 2021. A Risk Signature with Nine Stemness Index-Associated Genes for Predicting Survival of Patients with Uterine Corpus Endometrial Carcinoma. In Journal of oncology, 2021, 6653247. doi:10.1155/2021/6653247. https://pubmed.ncbi.nlm.nih.gov/33747079/