De novo gene increases brain size

Rich, April; Carvunis, Anne‐Ruxandra

doi:10.1038/s41559-022-01942-5

Cited by 5 publications

(4 citation statements)

References 12 publications

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“…Similar results have been achieved in transgenic mice with expression of human ARHGAP11B [122] and overexpression of SERPINA3 [123] genes. Notable is another recent study which suggests that emergence of de novo genes may have contributed to human brain enlargement [124,125]. Little is known, however, about what concretely sets these genetic processes in motion.…”

Section: Possible Evolutionary Molecular and Cellular Responses To Fe...mentioning

confidence: 99%

Fetal head-down posture may explain the rapid brain evolution in humans and other primates: An interpretative review

Macionis

2023

Brain Research

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Section: Possible Evolutionary Molecular and Cellular Responses To Fe...mentioning

confidence: 99%

Fetal head-down posture may explain the rapid brain evolution in humans and other primates: An interpretative review

Macionis

2023

Brain Research

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“…The recruitment of new genes into the transcriptome suggests that human anatomical novelties may evolve through the contribution of new gene evolution. Recent studies based on organoid modeling also support the importance of de novo genes on human brain size enlargement (An et al 2023;Rich and Carvunis 2023). These lines of evidence in recent decades about the functions of new genes contradict the conventional conservation-dominant understanding of human genetics and phenotypes.…”

Section: Introductionmentioning

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.

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“…The recruitment of new genes into the transcriptome suggests that human anatomical novelties may evolve through the contribution of new gene evolution. Recent studies based on organoid modeling also support the importance of de novo genes on human brain size enlargement [30,31]. These lines of evidence in recent decades about the functions of new genes contradict the conventional conservation-dominant understanding of human genetics and phenotypes.…”

Section: Introductionmentioning

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

De novo gene increases brain size

Cited by 5 publications

References 12 publications

Fetal head-down posture may explain the rapid brain evolution in humans and other primates: An interpretative review

Fetal head-down posture may explain the rapid brain evolution in humans and other primates: An interpretative review

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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