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Leypold, NA; Speicher, MR.
Review Evolutionary conservation in noncoding genomic regions
TRENDS GENET. 2021; 37(10): 903-918. Doi: 10.1016/j.tig.2021.06.007
Web of Science PubMed FullText FullText_MUG

Leading authors Med Uni Graz: Speicher Michael
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Abstract:: 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.