Genome editing technology enables precise modification of individual protein coding genes, as well as
noncoding regulatory sequences, enabling the elucidation of functional effects in human disease relevant cellular systems.
And let's face it, exome sequencing lets us conveniently avoid some of the most challenging aspects of human genomics, like detecting complex rearrangements (SVs) and interpreting
noncoding regulatory variants.
Characterization of
the noncoding regulatory landscape within human - specific duplicated regions.
Not exact matches
«This was what first led us to start an effort to identify novel genomic
regulatory elements to explore the
noncoding portion of the genome.
«By identifying this major regulator of
noncoding editing in C. elegans we can now focus on dissecting the
regulatory mechanism and determining the conservation of this
regulatory protein in human cells.»
Many are probably simply the consequence of 6 million years of genetic drift, with little effect on body or behavior, whereas other small changes — perhaps in
regulatory,
noncoding sequences — may have dramatic consequences.
One of the gene's molecular targets, for example, is a microRNA (a small
noncoding RNA molecule) called let7, which in turn regulates hundreds of other genes, so the effects of Lin28a can set off a complex array of
regulatory interactions.
Undoubtedly a significant proportion of important genetic variants lie in
noncoding regions, where they exert a
regulatory effect.
Rather than modify protein structure and function, these
noncoding variants frequently impact
regulatory elements and thereby alter the quantitative and spatiotemporal regulation of gene expression.
These included tier 1 (coding), tier 2 (conserved /
regulatory), and tier 3 (unique
noncoding) variants.
It's a complicated picture, to be sure, but it suggests some specific areas in which
noncoding variants are exerting a cis -
regulatory effect on the LPA gene.
It suggests that all of those
noncoding genetic associations are not random, but indicative of the intricate
regulatory genetic networks underlying complex human traits.