Cfap119-KO Mouse

Cfap119, details about its key aliases and associated pathways are currently not provided in the given references. However, it is associated with male fertility, indicating its importance in reproductive biological processes [1,2].

Research on cheetahs, which have a long-term low effective population size, has identified Cfap119 as one of the genes with premature termination codons (PTCs) likely affecting gene function. Mutations within this gene, along with three other genes (DEFB116, ARL13A, and NT5DC4), are linked to sterility, including azoospermia which is common in cheetahs [2].

In conclusion, Cfap119 is essential for male fertility. Studies in cheetahs, a species with unique genetic characteristics due to population bottlenecks, have revealed that mutations in Cfap119 can lead to sterility, highlighting its significance in reproductive health. These findings contribute to understanding the genetic basis of fertility-related diseases and potentially offer insights for developing strategies to address such issues [1,2].

References:

1. Ghader, Aryan. 2025. Digest: Do weakly deleterious mutations exacerbate reproductive and health challenges in species with prolonged bottlenecks? In Evolution; international journal of organic evolution, , . doi:10.1093/evolut/qpaf046. https://pubmed.ncbi.nlm.nih.gov/40089805/

2. Peers, Jessica A, Nash, Will J, Haerty, Wilfried. . Gene pseudogenization in fertility-associated genes in cheetah (Acinonyx jubatus), a species with long-term low effective population size. In Evolution; international journal of organic evolution, 79, 574-585. doi:10.1093/evolut/qpaf005. https://pubmed.ncbi.nlm.nih.gov/39821281/