Gene of the month archive

July 2015: Tnik

The TNIK TRAF2 and NCK interacting kinase (Tnik) gene is a protein encoding gene for the Tnik enzyme. Tnik is characterised by an N-terminal kinase domain and a C-terminal GCK domain. Tnik is known to play a role in canonical Wnt signalling and thought to control LRP6 stability and regulate the expression of WNT responsive genes.

More information about the Tnik gene can be found here.

Our results show that the Tnik homozygous knockout mice have decreased femoral strength, as identified by decreased maximum load during biomechanical testing. The femora also have decreased cortical thickness and trabecular number, with increased trabecular spacing.

June 2015: Edc4

The enhancer of mRNA decapping 4 (Edc4) gene is a protein encoding gene that is also known as GE1, Ge-1, RCD8, HEDL5, HEDLS and RCD-8. Edc4 is a scaffolding protein of p-bodies – areas in the cytoplasms of eukaryotic cells containing enzymes responsible for RNA turnover.

More information about the Edc4 gene can be found here.

Our results show that the Edc4 heterozygous knockout mice have increased vertebral strength, as investigated by biomechanical testing. The vertebra have significantly increased yield load, maximum load and stiffness. There is also a change in bone density of the cortical bone, which was not significant.

April 2015: Daam2

The dishevelled associated activator of morphogenesis 2 (Daam2) gene encodes the Daam2 protein. Daam2 is involved in the modulation of Wnt signalling, a pathway involved in a number of developmental processes – particularly the regulation of bone homeostasis. There is currently a literature gap regarding the potential role of Daam2 in bone, but there is evidence of a role in morphogenesis of gut and CNS via the Wnt pathway. More information about the Daam2 gene can be found here.

Our results show that the Daam2 homozygous knockout mice have low bone mineral content and decreased length in both the femur and vertebra. The vertebra are significantly weaker with reduced max load and stiffness than wildtype counterparts. There is also a reduction in femur cortical thickness, increased internal diameter, and reduced max load and energy dissipated prior to fracture, however these parameters were not significant.

March 2015: Mast2

The microtubule associated serine/threonine kinase 2 (Mast2) gene encodes the Mast2 enzyme. More information about the Mast2 gene can be found here.

Mast2 homozygous knockout mice which were analysed in the OBCD project have shown decreased cortical thickness, trabecular number and bone volume/tissue volume.