With the statistical power of 2,000 samples (half in a discovery set, half in a validation set), they were able to search for both cis - regulatory (variants
affecting nearby genes) and trans - regulatory (variants affecting distant genes) relationships.
Not exact matches
«Because many broadly expressed
genes that play key roles in essential cellular functions are under the control of cell - specific enhancers, the ability to
affect enhancer function by knocking down eRNAs could potentially provide a new strategy for altering
gene expression in vivo in a cell - specific manner,» said Glass, noting that in his research, anti-sense oligonucleotides were developed in conjunction with Isis Pharmaceuticals, which suppressed enhancer activity and reduced expression in
nearby genes.
In the study, they additionally confirmed that
nearby genetic variation in the form of cis - eQTLs
affected expression of about 50 percent of
genes in the samples.
In contrast, cis - eQTLs — which account for the majority of genetic variation that
affects gene expression — regulate
genes located
nearby on the same chromosome.
By analyzing genome sequence data from human populations, including 1269 individuals from sub-Saharan Africa, we identify a diverse array of large copy number variants
affecting the host invasion receptor
genes GYPA and GYPB We find that a
nearby association with severe malaria is explained by a complex structural rearrangement involving the loss of GYPB and gain of two GYPB - A hybrid
genes, which encode a serologically distinct blood group antigen known as Dantu.