Barøy, T. et al. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
The major QTL on chromosome 6, known as the Waxy locus, with modifier genes on chromosomes 3, 4, and 7, determined 14 16% AC of KDML105.
In summary, we have identified two modifier genes on Chr X that impact juvenile-type GC tumor development in female mice.
Altering the activities of these genetic modifier genes on their own may not result in obvious phenotypes in the absence of the conditioning (neurodegeneration-causing) mutation.
Another explanation is that there are other modifier genes on autosomes that interact with environment to result in different clinical symptoms.
The hypoactive phenotype observed in Ts1Cje mice is surprising and exemplifies the effect of modifier genes on the expression of a given phenotype.
Whether KCNN4 is a modifier gene for humans affected by CF remains to be explored.
Our results support the contention that Kcnn4 is indeed a modifier gene for intestinal CF, exerting its effect by downregulation of the immune response rather than through a direct effect on epithelial secretory function.
In summary, our results clearly demonstrate that Kcnn4 is a modifier gene for intestinal CF phenotype in mice.
Recently, genetic interaction screens on presumed modifier genes for dystroglycan and dystrophin in many drosophila melanogaster mutants, added even more putative signaling pathways, like the Notch, TGF-β, EGFR, Semaphorin-Plexin, Frazzled-Netrin and Slit-Robo pathways [51].
