Second, the 293 cells have relatively lower SALL4 expression compared to blood cell lines, which is better to demonstrate the gain-of functional study.
Much of the current knowledge has been informed by targeted gene deletion experiments and gain-of-functional analysis.
Of note, we observed an equivalent phenotype in transgenic lines expressing SHOC2S2G (38) and a PTPN11/SHP2 gain-of-function mutant (our unpublished data), suggesting functional equivalence of these mutants.
We have developed a genetic gain-of-function system in Drosophila to identify functional pathways and interactions for CLN3.
In many human tumors, including epithelial ovarian cancer [23], [25], [26], [27], [28], [29], [30], PIK3CA activation is a critical oncogenic event and can be mediated by multiple genetic/genomic alterations such as gene copy number amplification [23], gain of functional mutations [24], and transcriptional up-regulation [33], [34], [35].
The absence of a strong correlation between heteropecilly and heterotachy makes sense because the two heterogeneities do not apply on the same criteria: heterotachy is mainly due to loss or gain of functional constraints (i.e. variable strength of constraints), whereas heteropecilly is rather due to variation in the nature of functional constraints, not in their strength.
We know from other angiosperm mitochondrial genomes that sequence transfer from the plastid genome is frequent on an evolutionary timescale [ 14, 55] and that on occasion these transfer events led to the gain of functional tRNAs, based on their widespread conservation across angiosperms [ 56].
Hyperactive or gain-of-function mutations comprise an area of functional analysis that is often overlooked in large-scale mutation analyses.
Gene disruption may also play a significant functional role when known gain-of-function oncogenes are amplified.
This gain-of-function BubR1 mutant cannot sustain a functional checkpoint.
