Dcdc2c-KO Mouse

Dcdc2c, as of now, has been implicated in multiple biological contexts. In the context of sperm function, it may be associated with the assembly, organization, and dynamics of the flagellum microtubule, potentially playing a role in sperm motility and male fertility [1].

In human lung, it has been found that DNA methylation quantitative trait loci near Dcdc2c colocalize with chronic obstructive pulmonary disease (COPD) genome-wide association loci, suggesting a possible role in the pathogenesis of COPD [2].

In pigs, variants in/near Dcdc2c were associated with susceptibility to Salmonella, indicating its possible involvement in the host response to Salmonella infection [3].

In restless legs syndrome (RLS), in Caucasian populations, variants in Dcdc2c were associated with an increased risk of RLS, showing its potential link to this neurological disorder [4].

In the naked mole-rat, the loss of Dcdc2c gene was identified among several spermatozoa-related gene losses, which may be related to the unique degenerative sperm phenotype in this species [5].

In conclusion, Dcdc2c appears to have diverse functions, potentially in sperm-related processes, disease susceptibility such as in COPD and to Salmonella in pigs, and in the context of RLS. The gene loss studies in the naked mole-rat suggest its role in sperm characteristics. Further research, potentially including gene knockout or conditional knockout models, could provide more insights into its specific functions and contributions to these biological processes and disease conditions.

References:

1. Jumeau, Fanny, Chalmel, Frédéric, Fernandez-Gomez, Francisco-Jose, Sergeant, Nicolas, Mitchell, Valérie. . Defining the human sperm microtubulome: an integrated genomics approach. In Biology of reproduction, 96, 93-106. doi:10.1095/biolreprod.116.143479. https://pubmed.ncbi.nlm.nih.gov/28395323/

2. Morrow, Jarrett D, Glass, Kimberly, Cho, Michael H, Silverman, Edwin K, DeMeo, Dawn L. . Human Lung DNA Methylation Quantitative Trait Loci Colocalize with Chronic Obstructive Pulmonary Disease Genome-Wide Association Loci. In American journal of respiratory and critical care medicine, 197, 1275-1284. doi:10.1164/rccm.201707-1434OC. https://pubmed.ncbi.nlm.nih.gov/29313708/

3. Schut, Corinne H, Farzan, Abdolvahab, Fraser, Russell S, Friendship, Robert M, Lillie, Brandon N. 2020. Identification of single-nucleotide variants associated with susceptibility to Salmonella in pigs using a genome-wide association approach. In BMC veterinary research, 16, 138. doi:10.1186/s12917-020-02344-0. https://pubmed.ncbi.nlm.nih.gov/32414370/

4. Tan, Brendan Jen-Wei, Pang, Xin-Ler, Png, Sarah, Zhou, Zhi Dong, Tan, Eng-King. 2024. Genetic Association Studies in Restless Legs Syndrome: Risk Variants & Ethnic Differences. In The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, , 1-16. doi:10.1017/cjn.2024.8. https://pubmed.ncbi.nlm.nih.gov/38267254/

5. Sokolowski, Dustin J, Miclăuş, Mihai, Nater, Alexander, Balmus, Gabriel, Wilson, Michael D. 2024. An updated reference genome sequence and annotation reveals gene losses and gains underlying naked mole-rat biology. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.11.26.625329. https://pubmed.ncbi.nlm.nih.gov/39651266/