The ‘heart’ of the Fanconi anemia core complex, composed of FANCB-FANCL-FAAP100 (now FANCX) proteins, allows the rest of the core complex to assemble, and is necessary for downstream DNA repair.
Neuroscientists have used genetically engineered mice to address how one mutation in the gene for the light-sensing protein rhodopsin results in congenital stationary night blindness.
Genetic analysis of cases of male infertility revealed that rare mutations in a gene, known as SPOCD1, disrupts the formation of healthy sperm during development.