Loss-of-function mutations in Ccdc113 cause male infertility in both humans and mice.

Abstract excerpt

Although genetic factors contribute significantly to male infertility, the underlying mechanisms remain incompletely understood. Coiled-coil domain-containing protein 113 ( CCDC113 ) encodes a coiled-coil domain-containing protein critical for the assembly of cilia and flagella. Using whole-exome sequencing, we identified biallelic CCDC113 mutations in two unrelated families affected by...

Topics

• Male
• Humans
• Animals
• Mice
• Infertility, Male
• Mice, Knockout
• Loss of Function Mutation