They arise from mutations in one or several genes involved in DNA metabolism or in its regulation.
To analyse the recognition of SUMO chains in more detail, we created mutations of one or several of the SIMs in the RNF4-SIM domain.
Mutations in one or several of the key amino acids are a structural feature to distinguish between iGluRs and IRs, although they can be present in the coreceptors.
The limitation of HA degradation may be based on mutations in one or several of the genes coding for the HA degrading enzymes.
The emergence of strains with both minor and major mutations for one or several classes of ARVs poses a real problem, especially for the introduction of new ARVs or switch therapy for HIV-infected patients.
Generally, Mendelian disorders such as Marfan syndrome are mostly derived from mutations in one or several genes, whereas complex disorders such as myocardial infarction are related to multiple genetic determinants.
The most intuitive scenario invokes compensatory mutations: one perturbing mutation at a site is compensated by one or several mutations at other sites to maintain a higher order structure.
Loss of p53 function, either directly through mutation or indirectly through several other mechanisms, is often accompanied by cancerous transformation [ 53].
Mutation or depletion of several of the conserved MLL complex homologs in C. elegans causes a general, widespread depletion of H3K4me2 and H3K4me3 in all cells in the early embryo, including the transcriptionally inert P cells [ 59- 61].
As an impaired Keap1-Nrf2 system is induced by mutation or hypermethylation in several types of human cancer, we hypothesized that mutation or epigenetic changes of KEAP1 may decrease Keap1 expression and increase Nrf2 activity and transactivation of its downstream genes in CRC.
