Review Evolutionary conservation in noncoding genomic regions

Humans may share more genomic commonalities with other species than previously thought. According to current estimates, similar to 5% of the human genome is functionally constrained, which is a much larger fraction than the similar to 1.5% occupied by annotated protein-coding genes. Hence, similar to 3.5% of the human genome comprises likely functional conserved noncoding elements (CNEs) preserved among organisms, whose common ancestors existed throughout hundreds of millions of years of evolution. As whole-genome sequencing emerges as a standard procedure in genetic analyses, interpretation of variations in CNEs, including the elucidation of mechanistic and functional roles, becomes a necessity. Here, we discuss the phenomenon of noncoding conservation via four dimensions (sequence, regulatory conservation, spatiotemporal expression, and structure) and the potential significance of CNEs in phenotype variation and disease.

Automated summary

Research suggests that humans may share more genomic commonalities with other species than previously thought, including a significant fraction of conserved noncoding elements. As whole-genome sequencing becomes a standard procedure in genetic analyses, the interpretation of variations in these conserved elements is becoming increasingly necessary.