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Review
. 2025 Feb:90:102279.
doi: 10.1016/j.gde.2024.102279. Epub 2024 Nov 26.

Novelty versus innovation of gene regulatory elements in human evolution and disease

Affiliations
Review

Novelty versus innovation of gene regulatory elements in human evolution and disease

Anushka Katikaneni et al. Curr Opin Genet Dev. 2025 Feb.

Abstract

It is not currently understood how much of human evolution is due to modifying existing functional elements in the genome versus forging novel elements from nonfunctional DNA. Many early experiments that aimed to assign genetic changes on the human lineage to their resulting phenotypic change have focused on mutations that modify existing elements. However, a number of recent studies have highlighted the potential ease and importance of forging novel gene regulatory elements from nonfunctional sequences on the human lineage. In this review, we distinguish gene regulatory element novelty from innovation. We propose definitions for these terms and emphasize their importance in studying the genetic basis of human uniqueness. We discuss why the forging of novel regulatory elements may have been less emphasized during the previous decades, and why novel regulatory elements are likely to play a significant role in both human adaptation and disease.

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Conflict of interest statement

Declaration of Competing Interest AK reports no conflicts of interest. CBL owns stock in Alphabet and has a family member and friends who are employees of Alphabet subsidiaries.

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