The study of model mutations in the carboxyl-terminus of FIX is particularly informative to elucidate the interplay between pathogenic molecular mechanisms impairing protein biosynthesis and function.
Consistent with that model, mutations inactivating the ATPase activity of Upf1 also accumulate mRNAs in P-bodies (Sheth and Parker 2006).
According to this model, mutations that disrupt the secondary structure of the distal part of the MRE β-loop would compromise its interaction with a substrate.
Consistent with the structural model, mutations of any of the hydrophobic residues on ATRX destabilized the DAXXDHB-ATRXDBM interaction (Fig. 2B).
In our model, mutations only affect the propensity or speed of migration, and do not directly affect apoptosis or proliferation.
Under our model, mutations that occur along the branches separating the target haplotype and the template haplotype will be incorrectly imputed.
Together with the infinitely-many-sites model for mutations, the simplified multilocus haplotype model is used to approximate the evolutionary dynamics of the data.
In zebrafish and cell culture models, mutations in the N-terminal domain are better tolerated than mutations in the C-terminal domain10, 15.
Holland, E. C., Hively, W. P., Gallo, V. & Varmus, H. E. Modeling mutations in the G1 arrest pathway in human gliomas: overexpression of CDK4 but not loss of INK4a-ARF induces hyperploidy in cultured mouse astrocytes.
In murine models, mutations in the Dnmt3b gene negatively affect proper embryonic development [2], [5].
