scholarly journals Convergent regulatory evolution and loss of flight in paleognathous birds

Science ◽  
2019 ◽  
Vol 364 (6435) ◽  
pp. 74-78 ◽  
Author(s):  
Timothy B. Sackton ◽  
Phil Grayson ◽  
Alison Cloutier ◽  
Zhirui Hu ◽  
Jun S. Liu ◽  
...  
Keyword(s):  
Evolutionary Biology ◽  
Developmental Pathways ◽  
Open Chromatin ◽  
Phenotypic Evolution ◽  
Regulatory Evolution ◽  
Regulatory Regions ◽  
Protein Coding ◽  
Genomic Landscape ◽  
Functional Consequences ◽  
Conserved Noncoding Elements

A core question in evolutionary biology is whether convergent phenotypic evolution is driven by convergent molecular changes in proteins or regulatory regions. We combined phylogenomic, developmental, and epigenomic analysis of 11 new genomes of paleognathous birds, including an extinct moa, to show that convergent evolution of regulatory regions, more so than protein-coding genes, is prevalent among developmental pathways associated with independent losses of flight. A Bayesian analysis of 284,001 conserved noncoding elements, 60,665 of which are corroborated as enhancers by open chromatin states during development, identified 2355 independent accelerations along lineages of flightless paleognaths, with functional consequences for driving gene expression in the developing forelimb. Our results suggest that the genomic landscape associated with morphological convergence in ratites has a substantial shared regulatory component.

scholarly journals Convergent regulatory evolution and the origin of flightlessness in palaeognathous birds

2018 ◽  
Author(s):  
Timothy B. Sackton ◽  
Phil Grayson ◽  
Alison Cloutier ◽  
Zhirui Hu ◽  
Jun S. Liu ◽  
...  
Keyword(s):  
Evolutionary Biology ◽  
Draft Genome ◽  
Phenotypic Traits ◽  
Open Chromatin ◽  
Regulatory Evolution ◽  
Enhancer Activity ◽  
Regulatory Regions ◽  
Protein Coding ◽  
First Intron ◽  
Drive Reporter Gene Expression

The relative roles of regulatory and protein evolution in the origin and loss of convergent phenotypic traits is a core question in evolutionary biology. Here we combine phylogenomic, epigenomic and developmental data to show that convergent evolution of regulatory regions, but not protein-coding genes, is associated with flightlessness in palaeognathous birds, a classic example of a convergent phenotype. Eleven new genomes, including a draft genome from an extinct moa, resolve palaeognath phylogeny and show that the incidence of independent, convergent accelerations among 284,000 conserved non-exonic elements is significantly more frequent in ratites than other bird lineages. Ratite-specific acceleration of conserved regions and measures of open chromatin across eight tissues in the developing chick identify candidate regulatory regions that may have modified or lost function in ratites. Enhancer activity assays conducted in the early developing chicken forelimb confirm that volant versions of a conserved element in the first intron of the TEAD1 gene display conserved enhancer activity, whereas an accelerated flightless version fails to drive reporter gene expression. Our results show that convergent molecular changes associated with loss of flight are largely regulatory in nature.

scholarly journals Loss of critical developmental and human disease-causing genes in 58 mammals

2019 ◽  
Author(s):  
Yatish Turakhia ◽  
Heidi I. Chen ◽  
Amir Marcovitz ◽  
Gill Bejerano
Keyword(s):  
Evolutionary Biology ◽  
Large Scale ◽  
Gene Annotation ◽  
Synonymous Substitution ◽  
Specific Gene ◽  
High Confidence ◽  
Protein Coding ◽  
Congenital Diseases ◽  
Manual Curation ◽  
Human Genes

Gene losses provide an insightful route for studying the morphological and physiological adaptations of species, but their discovery is challenging. Existing genome annotation tools and protein databases focus on annotating intact genes and do not attempt to distinguish nonfunctional genes from genes missing annotation due to sequencing and assembly artifacts. Previous attempts to annotate gene losses have required significant manual curation, which hampers their scalability for the ever-increasing deluge of newly sequenced genomes. Using extreme sequence erosion (deletion and non-synonymous substitution) as an unambiguous signature of loss, we developed an automated approach for detecting high-confidence protein-coding gene loss events across a species tree. Our approach relies solely on gene annotation in a single reference genome, raw assemblies for the remaining species to analyze, and the associated phylogenetic tree for all organisms involved. Using the hg38 human assembly as a reference, we discovered over 500 unique human genes affected by such high-confidence erosion events in different clades across 58 mammals. While most of these events likely have benign consequences, we also found dozens of clade-specific gene losses that result in early lethality in outgroup mammals or are associated with severe congenital diseases in humans. Our discoveries yield intriguing potential for translational medical genetics and for evolutionary biology, and our approach is readily applicable to large-scale genome sequencing efforts across the tree of life.

scholarly journals Natural Selection at an Exceptionally Long GGC Repeat in the Human RASGEF1C and Divergent Genotypes in Late-onset Neurocognitive Disorder

2021 ◽  
Author(s):  
Z Jafarian ◽  
S Khamse ◽  
H Afshar ◽  
Khorram Khorshid HR ◽  
A Delbari ◽  
...  
Keyword(s):  
Natural Selection ◽  
Evolutionary Biology ◽  
Late Onset ◽  
Core Promoter ◽  
Human Subjects ◽  
Specific Gene ◽  
Protein Coding ◽  
Repeat Allele ◽  
Complex Disorders ◽  
Selection For

Abstract Across the human protein-coding genes, the neuron-specific gene, RASGEF1C, contains the longest (GGC)-repeat, spanning its core promoter and 5′ untranslated region (RASGEF1C-201 ENST00000361132.9). RASGEF1C expression dysregulation occurs in late-onset neurocognitive disorders (NCDs), such as Alzheimer’s disease. Here we sequenced the GGC-repeat in a sample of human subjects (N = 269), consisting of late-onset NCDs (N = 115) and controls (N = 154). We also studied the status of this STR across vertebrates. The 6-repeat allele of this repeat was the predominant allele in the controls (frequency = 0.85) and NCD patients (frequency = 0.78). The NCD genotype compartment consisted of an excess of genotypes that lacked the 6-repeat (Mid-P exact = 0.004). We also detected divergent genotypes that were present in five NCD patients and not in the controls (Mid-P exact = 0.007). This STR expanded beyond 2-repeats specifically in primates, and was at maximum length in human. We conclude that there is natural selection for the 6-repeat allele of the RASGEF1C (GGC)-repeat in human, and significant divergence from that allele in late-onset NCDs. Indication of natural selection for predominantly abundant STR alleles and divergent genotypes enhance the perspective of evolutionary biology and disease pathogenesis in human complex disorders.

The Intellectual Challenge of Morphological Evolution: A Case for Variational Structuralism

2014 ◽  
Author(s):  
Günter P. Wagner
Keyword(s):  
Developmental Biology ◽  
Evolutionary Biology ◽  
Morphological Evolution ◽  
Evolutionary Developmental Biology ◽  
Phenotypic Evolution ◽  
Developmental Variation ◽  
Core Idea ◽  
Intellectual Challenge

This chapter explores variational structuralism, whose core idea is that organisms and their parts play causal roles in shaping the patterns of phenotypic evolution. Drawing on the work of pioneers such as Ron Amundson, it discusses the conceptual incompatibilities between two styles of thinking in evolutionary biology: functionalism and structuralism. It proceeds by explaining the meaning of developmental types and structuralist concepts arising from macromolecular studies. It also examines facts and ideas about bodies, Rupert Riedl's theory of the “immitatory epigenotype,” and Neil Shubin and Pere Alberch's developmental interpretation of tetrapod limbs. Finally, it looks at the emergence of molecular structuralism and the enigma of developmental variation. The chapter argues that typology naturally emerged from the facts of evolutionary developmental biology and that it would be seriously problematic to try to avoid it.

scholarly journals Impact of transition to a subterranean lifestyle on morphological disparity and integration in talpid moles (Mammalia, Talpidae)

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Gabriele Sansalone ◽  
Paolo Colangelo ◽  
Anna Loy ◽  
Pasquale Raia ◽  
Stephen Wroe ◽  
...  
Keyword(s):  
Evolutionary Biology ◽  
Morphological Variability ◽  
Phenotypic Integration ◽  
Phenotypic Traits ◽  
Phenotypic Evolution ◽  
Morphological Disparity ◽  
Morphological Diversification ◽  
Phylogenetic Conservatism ◽  
Selective Forces ◽  
Subterranean Species

Abstract Background Understanding the mechanisms promoting or constraining morphological diversification within clades is a central topic in evolutionary biology. Ecological transitions are of particular interest because of their influence upon the selective forces and factors involved in phenotypic evolution. Here we focused on the humerus and mandibles of talpid moles to test whether the transition to the subterranean lifestyle impacted morphological disparity and phenotypic traits covariation between these two structures. Results Our results indicate non-subterranean species occupy a significantly larger portion of the talpid moles morphospace. However, there is no difference between subterranean and non-subterranean moles in terms of the strength and direction of phenotypic integration. Conclusions Our study shows that the transition to a subterranean lifestyle significantly reduced morphological variability in talpid moles. However, this reduced disparity was not accompanied by changes in the pattern of traits covariation between the humerus and the mandible, suggesting the presence of strong phylogenetic conservatism within this pattern.

scholarly journals Conserved cis-regulatory regions in a large genomic landscape control SHH and BMP-regulated Gremlin1 expression in mouse limb buds

2012 ◽  
Vol 12 (1) ◽  
pp. 23 ◽  
Author(s):  
Aimée Zuniga ◽  
Frédéric Laurent ◽  
Javier Lopez-Rios ◽  
Christian Klasen ◽  
Nicolas Matt ◽  
...  
Keyword(s):  
Limb Buds ◽  
Regulatory Regions ◽  
Genomic Landscape ◽  
Mouse Limb ◽  
Landscape Control

scholarly journals Rapid action in the Palaeogene, the relationship between phenotypic and taxonomic diversification in Coenozoic mammals

2013 ◽  
Vol 280 (1750) ◽  
pp. 20122244 ◽  
Author(s):  
P. Raia ◽  
F. Carotenuto ◽  
F. Passaro ◽  
P. Piras ◽  
D. Fulgione ◽  
...  
Keyword(s):  
Body Size ◽  
Resource Utilization ◽  
Evolutionary Biology ◽  
Species Level ◽  
Phenotypic Evolution ◽  
Diversification Rates ◽  
Rapid Action ◽  
Hierarchic Level ◽  
The Relationship ◽  
Size Estimates

A classic question in evolutionary biology concerns the tempo and mode of lineage evolution. Considered variously in relation to resource utilization, intrinsic constraints or hierarchic level, the question of how evolutionary change occurs in general has continued to draw the attention of the field for over a century and a half. Here we use the largest species-level phylogeny of Coenozoic fossil mammals (1031 species) ever assembled and their body size estimates, to show that body size and taxonomic diversification rates declined from the origin of placentals towards the present, and very probably correlate to each other. These findings suggest that morphological and taxic diversifications of mammals occurred hierarchically, with major shifts in body size coinciding with the birth of large clades, followed by taxonomic diversification within these newly formed clades. As the clades expanded, rates of taxonomic diversification proceeded independently of phenotypic evolution. Such a dynamic is consistent with the idea, central to the Modern Synthesis, that mammals radiated adaptively, with the filling of adaptive zones following the radiation.

scholarly journals Discovery of Transcription Factors and Regulatory Regions Driving In Vivo Tumor Development by ATAC-seq and FAIRE-seq Open Chromatin Profiling

PLoS Genetics ◽  
2015 ◽  
Vol 11 (2) ◽  
pp. e1004994 ◽  
Author(s):  
Kristofer Davie ◽  
Jelle Jacobs ◽  
Mardelle Atkins ◽  
Delphine Potier ◽  
Valerie Christiaens ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Tumor Development ◽  
Open Chromatin ◽  
Regulatory Regions ◽  
Chromatin Profiling

scholarly journals Fly wing evolution explained by a neutral model with mutational pleiotropy

2020 ◽  
Author(s):  
Daohan Jiang ◽  
Jianzhi Zhang
Keyword(s):  
Linear Correlation ◽  
Evolutionary Biology ◽  
Stabilizing Selection ◽  
Evolutionary Divergence ◽  
Phenotypic Evolution ◽  
Central Question ◽  
Evolutionary Patterns ◽  
Strong Linear Correlation ◽  
Mutational Variance

ABSTRACTTo what extent the speed of mutational production of phenotypic variation determines the rate of long-term phenotypic evolution is a central question in evolutionary biology. In a recent study, Houle et al. addressed this question by studying the mutational variation, microevolution, and macroevolution of locations of vein intersections on fly wings, reporting very slow phenotypic evolution relative to the rates of mutational input, high phylogenetic signals of these traits, and a strong, linear correlation between the mutational variance of a trait and its rate of evolution. Houle et al. examined multiple models of phenotypic evolution but found none consistent with all these observations. Here we demonstrate that the purported linear correlation between mutational variance and evolutionary divergence is an artifact. More importantly, patterns of fly wing evolution are explainable by a simple model in which the wing traits are neutral or neutral within a range of phenotypic values but their evolutionary rates are reduced because most mutations affecting these traits are purged owing to their pleiotropic effects on other traits that are under stabilizing selection. We conclude that the evolutionary patterns of fly wing morphologies are explainable under the existing theoretical framework of phenotypic evolution.

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