Ccdc175-KO Mouse

CCDC175, whose full name is Coiled-Coil Domain Containing 175, is a gene that has been implicated in multiple biological contexts. While its exact function remains to be fully elucidated, studies suggest its involvement in processes related to cone development and survival, as well as retina neurotransmission, potentially via its association with genes like GUCY2D [1].

In a study on cone-rod dystrophies (CORDs), a heterogeneous group of inherited retinopathies, a new CCDC175 c.76C>T variant was found in affected family members. This variant showed an extremely low frequency in the control group, indicating a possible key role in the CORD phenotypes. This discovery implies that CCDC175 may act as a modifier gene in the onset or progression of CORDs [1].

In a comparative genomic and transcriptomic study of long-lived and short-lived bats, CCDC175 was one of three genes that exhibited significant positive selection between long-lived Myotis myotis and short-lived Molossus molossus. This suggests its potential involvement in the molecular mechanisms underlying longevity [2].

In conclusion, CCDC175 appears to be involved in important biological processes such as cone-related functions in the retina and potentially in the regulation of longevity. Its role as a possible modifier gene in CORDs provides new insights into the genetic basis of this disease, and its association with positive selection in bats offers clues about the molecular signatures of longevity. Further functional studies, perhaps through gene knockout or conditional knockout mouse models, could help to better understand the exact functions of CCDC175 in these biological processes and disease conditions [1,2].

References:

1. Donato, Luigi, Alibrandi, Simona, Scimone, Concetta, D'Angelo, Rosalia, Sidoti, Antonina. 2022. The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. In PloS one, 17, e0278857. doi:10.1371/journal.pone.0278857. https://pubmed.ncbi.nlm.nih.gov/36490268/

2. Huang, Zixia, Whelan, Conor V, Dechmann, Dina, Teeling, Emma C. . Genetic variation between long-lived versus short-lived bats illuminates the molecular signatures of longevity. In Aging, 12, 15962-15977. doi:10.18632/aging.103725. https://pubmed.ncbi.nlm.nih.gov/32674072/