Marybeth Baumgartner

A Human Accelerated Region Drives Opposing Heterochronic Changes in Craniofacial and Limb Development

Yu Ji, Matheo Morales, Marybeth Baumgartner, James P. Noonan

Abstract Many human developmental processes proceed over a prolonged timescale compared to other primates, a phenomenon known as heterochrony. Human accelerated regions (HARs), which encode transcriptional enhancers with human-specific activity, have been implicated in the evolution of novel human traits. However, their …

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Author Correction: CpG island turnover events predict evolutionary changes in enhancer activity

Acadia A. Kocher, Emily V. Dutrow, Severin Uebbing, Kristina Yim et autres

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Erratum: Author Correction: CpG island turnover events predict evolutionary changes in enhancer activity (Genome biology (2024) 25 1 DOI: 10.1186/s13059-024-03300-z.)

Acadia A. Kocher, Emily V. Dutrow, Severin Uebbing, Kristina Yim et autres

Following publication of the original article [1], the authors reported an error in the description of the confidence interval shown by box-and-whisker plots in Figs. 1C, 1D, 2C, 2D, and 3E. Previously the legends for these figure panels incorrectly reported that whiskers …

Cell-type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development

Kristina Yim, Marybeth Baumgartner, Martina Krenzer, María F. Rosales Larios et autres

Disruptive variants in the chromodomain helicase CHD8 are associated with risk for autism spectrum disorder (ASD). CHD8 haploinsufficiency is hypothesized to contribute to ASD by perturbing neurodevelopmental gene expression. However, insight into cell-type-specific transcriptional effects of CHD8 haploinsufficiency remains limited. We used …

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Resolving the three-dimensional interactome of human accelerated regions during human and chimpanzee neurodevelopment

Atreyo Pal, Mark Noble, Matheo Morales, Richik Pal et autres

Resolving the three-dimensional interactome of human accelerated regions during human and chimpanzee neurodevelopment

Atreyo Pal, Mark Noble, Matheo Morales, Richik Pal et autres

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Evolutionary Innovations in Conserved Regulatory Elements Associate With Developmental Genes in Mammals

Severin Uebbing, Acadia A. Kocher, Marybeth Baumgartner, Suxia Bai et autres

Transcriptional enhancers orchestrate cell type- and time point-specific gene expression programs. Genetic variation within enhancer sequences is an important contributor to phenotypic variation including evolutionary adaptations and human disease. Certain genes and pathways may be more prone to regulatory evolution than others, …

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Reconstructing human-specific regulatory functions in model systems

Marybeth Baumgartner, Yu Ji, James P. Noonan

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Cell type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development

Kristina Yim, Marybeth Baumgartner, Martina Krenzer, María F. Rosales Larios et autres

Summary Disruptive variants in the chromodomain helicase CHD8 , which acts as a transcriptional regulator during neurodevelopment, are strongly associated with risk for autism spectrum disorder (ASD). Loss of CHD8 function is hypothesized to perturb gene regulatory networks in the developing brain, …

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Human Accelerated Regions regulate gene networks implicated in apical-to-basal neural progenitor fate transitions

Mark Noble, Yu Ji, Kristina Yim, Je Won Yang et autres

Abstract The evolution of the human cerebral cortex involved modifications in the composition and proliferative potential of the neural stem cell (NSC) niche during brain development. Human Accelerated Regions (HARs) exhibit a significant excess of human-specific sequence changes and have been implicated …

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Resolving the three-dimensional interactome of Human Accelerated Regions during human and chimpanzee neurodevelopment

Atreyo Pal, Mark Noble, Matheo Morales, Richik Pal et autres

Human Accelerated Regions (HARs) are highly conserved across species but exhibit a significant excess of human-specific sequence changes, suggesting they may have gained novel functions in human evolution. HARs include transcriptional enhancers with human-specific activity and have been implicated in the evolution …

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CpG island turnover events predict evolutionary changes in enhancer activity

Acadia A. Kocher, Emily V. Dutrow, Severin Uebbing, Kristina Yim et autres

BACKGROUND: Genetic changes that modify the function of transcriptional enhancers have been linked to the evolution of biological diversity across species. Multiple studies have focused on the role of nucleotide substitutions, transposition, and insertions and deletions in altering enhancer function. CpG islands …

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