Primordial short stature biology

Mutations in CUL7, OBSL1 and CCDC8 cause one of the most common primordial growth disorders, 3-M syndrome. This condition is associated with abnormal p53 function, GH and/or IGF1 resistance, and cellular IGF2 deficiency. However the exact molecular mechanisms remain undefined. Hanson and colleagues used various approaches to identify a strong association between mRNA splicing, ubiquitination and the IGF pathway with the function of the CUL7/ OBSL1/CCDC8 complex. They also identified an association with cell cycle and DNA damage response pathways which are also found to be defective in numerous other growth disorders suggesting that their dysfunction is vital for postnatal growth.

Read the full article at Hanson et al. (2014) Journal of Molecular Endocrinology 52 333–344; DOI:10.1530