Evolutionary formation of a human<i>de novo</i>open reading frame from a non-primate non-coding genomic region that proceeds via biased random mutations

Delihas, Nicholas

doi:10.1101/2023.08.09.552707

Cited by 2 publications

(2 citation statements)

References 51 publications

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“…The SRGAP2C accounts for human-specific feature of neoteny and can promote motor and execution skills in mouse and monkey model (Charrier et al 2012; Dennis et al 2012; Meng et al 2023). The de novo gene SMIM45 (Delihas 2023) associates with cortical expansion based on extensive models (An et al 2023).…”

Section: Discussionmentioning

confidence: 99%

Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.

Chen,

Landback,

Arsala

et al. 2023

Preprint

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New genes (or young genes) are structural novelties pivotal in mammalian evolution. Their phenotypic impacts on humans, however, remain elusive due to the technical and ethical complexities in functional studies. Through combining gene age dating with Mendelian disease phenotyping, our research reveals a steady integration of new genes with biomedical phenotypes into the human genome over macroevolutionary timescales (∼0.07% per million years). Despite this stable pace, we observe distinct patterns in phenotypic enrichment, pleiotropy, and selective pressures shaped by different gene ages. Notably, young genes show significant enrichment in the male reproductive system, indicating strong sexual selection. Young genes also exhibit functions in tissues and systems potentially linked to human phenotypic innovations, such as increased brain size, musculoskeletal phenotypes, and color vision. Our findings further reveal increasing levels of pleiotropy over evolutionary time, which accompanies stronger selective constraints. We propose a “pleiotropy-barrier” model that delineates different potentials for phenotypic innovation between young and older genes subject to natural selection. Our study demonstrates that evolutionary new genes are critical in influencing human reproductive evolution and adaptive phenotypic innovations driven by sexual and natural selection, with low pleiotropy as a selective advantage.

show abstract

Section: Discussionmentioning

confidence: 99%

Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.

Chen,

Landback,

Arsala

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…The SRGAP2C accounts for human-speci c feature of neoteny and can promote motor and execution skills in mouse and monkey model [96][97][98]. The de novo gene SMIM45 [99] associates with cortical expansion based on extensive models [31].…”

Section: Discussionmentioning

confidence: 99%

Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.

chen

2023

Preprint

View full text Add to dashboard Cite

New genes (or young genes) are structural novelties pivotal in mammalian evolution. Their phenotypic impact on humans, however, remains elusive due to the technical and ethical complexities in functional studies. Through combining gene age dating with Mendelian disease phenotyping, our research reveals that new genes associated with disease phenotypes steadily integrate into the human genome at a rate of ~ 0.07% every million years over macroevolutionary timescales. Despite this stable pace, we observe distinct patterns in phenotypic enrichment, pleiotropy, and selective pressures between young and old genes. Notably, young genes show significant enrichment in the male reproductive system, indicating strong sexual selection. Young genes also exhibit functions in tissues and systems potentially linked to human phenotypic innovations, such as increased brain size, bipedal locomotion, and color vision. Our findings further reveal increasing levels of pleiotropy over evolutionary time, which accompanies stronger selective constraints. We propose a “pleiotropy-barrier” model that delineates different potentials for phenotypic innovation between young and older genes subject to natural selection. Our study demonstrates that evolutionary new genes are critical in influencing human reproductive evolution and adaptive phenotypic innovations driven by sexual and natural selection, with low pleiotropy as a selective advantage.

show abstract

Evolutionary formation of a humande novoopen reading frame from a non-primate non-coding genomic region that proceeds via biased random mutations

Cited by 2 publications

References 51 publications

Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.

Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.

Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.

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