Evolution and implications of de novo genes in humans.

Autor: Broeils LA; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Ruiz-Orera J; Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Snel B; Theoretical Biology and Bioinformatics, Department of Biology, Faculty of Science, Utrecht University, Utrecht, The Netherlands., Hubner N; Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.; Charité-Universitätsmedizin, Berlin, Germany.; DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany., van Heesch S; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands. s.vanheesch@prinsesmaximacentrum.nl.
Jazyk: angličtina
Zdroj: Nature ecology & evolution [Nat Ecol Evol] 2023 Jun; Vol. 7 (6), pp. 804-815. Date of Electronic Publication: 2023 Mar 16.
DOI: 10.1038/s41559-023-02014-y
Abstrakt: Genes and translated open reading frames (ORFs) that emerged de novo from previously non-coding sequences provide species with opportunities for adaptation. When aberrantly activated, some human-specific de novo genes and ORFs have disease-promoting properties-for instance, driving tumour growth. Thousands of putative de novo coding sequences have been described in humans, but we still do not know what fraction of those ORFs has readily acquired a function. Here, we discuss the challenges and controversies surrounding the detection, mechanisms of origin, annotation, validation and characterization of de novo genes and ORFs. Through manual curation of literature and databases, we provide a thorough table with most de novo genes reported for humans to date. We re-evaluate each locus by tracing the enabling mutations and list proposed disease associations, protein characteristics and supporting evidence for translation and protein detection. This work will support future explorations of de novo genes and ORFs in humans.
(© 2023. Springer Nature Limited.)
Databáze: MEDLINE
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