Ccdc73-KO Mouse

Ccdc73, short for coiled-coil domain-containing protein 73, is a gene whose precise function and associated pathways are still being explored. It is among genes with conserved evolutionary patterns across eutherians including humans and mice, suggesting an important biological role [1].

A gene knockout (KO) study in mice found that individual deletion of Ccdc73 by CRISPR/Cas9 did not lead to detectable differences in testis/body weight ratios, epididymal sperm counts, testicular and epididymal histology, and the KO mice had normal fertility. This indicates that in laboratory conditions, Ccdc73 is not individually essential for spermatogenesis, testis development, and male fertility in mice [1]. In lung cancer, patients with a high transcription level of Ccdc73 gene tended to have a good prognosis, and the function of drug-resistance-related genes it was grouped with was mainly related to RNA polymerization [2]. Also, in a patient with cryptorchidism and azoospermia, a microdeletion at 11p13 removed Ccdc73 along with other genes [3]. Additionally, Ccdc73 was part of a 17-gene signature identified through a risk-weighted sparse regression (RWSR) model in early-stage bladder carcinoma, and it was proven to be a prognosis-related gene [4].

In conclusion, while Ccdc73 is evolutionarily conserved, its deletion in mice does not disrupt male fertility-related processes under laboratory settings. In human diseases, it shows potential as a prognostic factor in lung and bladder cancers and may be involved in the pathology of cryptorchidism and azoospermia cases with specific gene deletions. The gene knockout mouse model has contributed to understanding its non-essential role in mouse spermatogenesis and testis development, and further studies could potentially clarify its functions in disease-related biological processes in humans.

References:

1. Khan, Manan, Jabeen, Nazish, Khan, Teka, Jiang, Xiaohua, Shi, Qinghua. 2018. The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in mice. In Scientific reports, 8, 4975. doi:10.1038/s41598-018-23176-x. https://pubmed.ncbi.nlm.nih.gov/29563520/

2. Zhu, Liang, Chen, Peixin, Wang, Hao, Yu, Jia, Dai, Jiawei. . Analysis of prognostic and therapeutic values of drug resistance-related genes in the lung cancer microenvironment. In Translational cancer research, 11, 339-357. doi:10.21037/tcr-21-1841. https://pubmed.ncbi.nlm.nih.gov/35281414/

3. Seabra, Catarina M, Quental, Sofia, Neto, Ana Paula, Amorim, António, Lopes, Alexandra M. 2014. A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia. In Reproductive biomedicine online, 29, 388-91. doi:10.1016/j.rbmo.2014.04.017. https://pubmed.ncbi.nlm.nih.gov/24912414/

4. Liu, Liyang, Zhong, Xiaodan, Cui, Haining, Wang, Linyu, Liu, Yuanning. 2020. Identification of an Individualized Prognostic Signature Based on the RWSR Model in Early-Stage Bladder Carcinoma. In BioMed research international, 2020, 9186546. doi:10.1155/2020/9186546. https://pubmed.ncbi.nlm.nih.gov/32596394/