Identification of constrained sequence elements across 239 primate genomes.

ABSTRACT: Noncoding DNA is central to our understanding of human gene regulation and complex diseases^1,2, and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome^3-9. Identifying the genomic elements that have become constrained specifically in primates has been hampered by the faster evolution of noncoding DNA compared to protein-coding DNA¹⁰, the relatively short timescales separating primate species¹¹, and the previously limited availability of whole-genome sequences¹². Here we construct a whole-genome alignment of 239 species, representing nearly half of all extant species in the primate order. Using this resource, we identified human regulatory elements tha

SUBMITTER: Kuderna LFK 

PROVIDER: S-EPMC10808062 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature