The parental imbalance of expression thus defines FIS2 and FWA as imprinted genes.
These results are consistent with an imbalance of expression of the two alleles, as expected for a leaky variant.
When using imbalances of allelic expression in heterozygotes, previous reports point to a much greater proportion of genes (30 to 60%) with cis-acting regulation [ 14, 16, 18, 36- 39].
The genetic redundancy within an allopolyploid could explain why functionally related proteins could display imbalanced levels of expression.
This study shows that alterations in the expression of IAP family members, as well as a marked imbalance of the expression ratio of antagonistic regulators, such as XIAP/XAF1, play an important role in HCC and patient's prognosis.
Budde, T. et al. Impaired regulation of thalamic pacemaker channels through an imbalance of subunit expression in absence epilepsy.
The laminar imbalance of COMT expression, which presumably leads to imbalance of dopamine availability at the synaptic level, may contribute to dysregulation of pyramidal neuronal circuitry in the prefrontal cortex, albeit to a relatively small degree.
Unexpectedly, these strains showed ethanol sensitivity compared with the control strain, probably due to imbalance of the expression level between Msn2 and Msn4.
Furthermore, expression of the relatively insoluble subunits of simple epithelial keratins carries the risk of protein aggregation induced cellular disease [30]in the event of mutation, imbalance of subunit expression, chemical induced aggregation or deficient degradation [31].
A complementary approach is the analysis of allelic imbalance of gene expression owing to unequal transcription (or splicing) from the two alleles or haplotypes using RNA samples from individuals who are heterozygous at the eQTL SNP.
