Microtubule Associated Serine/Threonine Kinase Like Protein (MASTL)

Gandhi et al. (2003) identified MASTL, which they called FLJ14813, within the region of chromosome 10p where Drachman et al. (2000) had mapped autosomal dominant thrombocytopenia, also known as thrombocytopenia-2 (THC2), by linkage analysis. The protein product of the MASTL gene is a putative kinase that contains 2 highly conserved kinase domains. Gandhi et al. (2003) noted that a similar gene, 'greatwall,' had been described in Drosophila. EMS-induced mutations in the greatwall gene cause a metaphase-arrest phenotype and problems in chromosome condensation.

By extensive sequencing of multiple genes located in the critical segment on 10p, Gandhi et al. (2003) demonstrated a missense mutation in the MASTL gene .