Development of an
Invertebrate Model of Fanconi anemia
Fanconi anemia (FA)
is a rare human genetic disease characterized by developmental defects,
bone marrow failure and cancer susceptibility. FA is caused by biallelic
mutations in any one of fifteen genes. The FA proteins function in
DNA repair. However, the genetics and biochemistry of this process
are poorly understood. Ciona intestinalis (sea squirt) is a model
invertebrate organism widely used to study developmental gene
regulation. Preliminary studies indicate that several of the FA
genes are well conserved in this simple organism, which may provide a
tractable experimental system for FA study. The goals of this
project are to establish the timing and pattern of FA gene expression in
Ciona and to determine the function of the FA proteins in this model
invertebrate organism. The project is expected to entail general
molecular biology techniques including PCR, and in-situ hybridization,
and may include local field collection of Ciona.
