Molecular cloning and characterization of sq163, a zebrafish liver mutant

Abstract

The motivation to understand embryonic liver development has lead to forward genetic strategy to screen for zebrafish liver mutants in our lab. One of the mutants obtained, sq163, exhibits small liver phenotype. Positional cloning of sq163 revealed an amino acid substitution of L to Q at the GTPase domain of Bms1l. Bms1l is a key component in the 40S ribosomal biogenesis pathway that recruits many other ribosomal proteins onto the pre-ribosome-rRNA complex. Its role in this universal mechanism of ribosomes production has been well studied and established in yeast. This thesis describes the identification and characterization of sq163 and puts forward an exciting genetic indication of Bms1l having a specific function in liver organogenesis.