Autosomal recessive MED appears to result exclusively from mutations in sulphate transporter solute carrier family 26.
In contrast, autosomal recessive MED (rMED) appears to result exclusively from mutations in sulphate transporter solute carrier family 26 (SLC26A26.
PSACH is believed to result exclusively from mutations in the gene encoding cartilage oligomeric matrix protein (COMP; MIM# 600310), as does the largest proportion of AD-MED [Briggs and Chapman, 2002; Briggs et al., 1995; Hecht et al., 1995].
We show evidence in a mouse model that resistance to sorafenib does not appear to result exclusively (or possibly at all) from a stable genetic mutation, as seen with resistance of lung cancer to erlotinib or CML to imatinib [7], [8].
Interestingly, missense/inframe mutations were predominantly identified in tumors exhibiting p53 stabilization whereas frameshift mutations resulting in protein truncation were identified exclusively in p53 negative tumors (Additional file 3: Table S3).
In contrast, mutations resulting in protein truncation undergo negative selection and were almost exclusively heteroplasmic.
Applying the model to mutations of the hprt gene induced in G0 human lymphocyte cells by low-LET radiation, it is calculated that mutations resulting from translocations account for about 14% of the total mutations.
Consistent with this possibility, the Thr439Val mutant exhibited exclusively gating currents, while the Thr439Ser mutation resulted in a modest threefold faster inactivation than observed for WT channels, likely indicating a minor role for the Thr439 methyl group in slow inactivation.
Exclusively expressed myc-tagged KREPA3 with ZF2 mutation resulted in lower KREPA3 abundance and a relative increase in KREPA2 and KREL1 proteins.
Interestingly, while the replication-dependent, UV-induced mutations were mainly point mutations, H2O2 treatment of the MEFs resulted almost exclusively in the kind of genome rearrangement mutations (Figure 9A) observed to increase with age in the serosa of the small intestine (Figure 7B) and in heart and liver of these same lacZ-plasmid mice [2], [3].
