Irina Ruf

ORCID: 0000-0002-9728-1210
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Research Areas
  • Evolution and Paleontology Studies
  • Bat Biology and Ecology Studies
  • Amphibian and Reptile Biology
  • Animal Ecology and Behavior Studies
  • Paleontology and Evolutionary Biology
  • Genomics and Phylogenetic Studies
  • Marine animal studies overview
  • Ichthyology and Marine Biology
  • Wildlife Ecology and Conservation
  • Comparative Animal Anatomy Studies
  • Morphological variations and asymmetry
  • Genetic diversity and population structure
  • Genomics and Chromatin Dynamics
  • Chromosomal and Genetic Variations
  • Primate Behavior and Ecology
  • Physiological and biochemical adaptations
  • Ecology and biodiversity studies
  • dental development and anomalies
  • Olfactory and Sensory Function Studies
  • Pleistocene-Era Hominins and Archaeology
  • Biochemical Analysis and Sensing Techniques
  • RNA and protein synthesis mechanisms
  • Animal Behavior and Reproduction
  • Medical and Biological Sciences
  • Cephalopods and Marine Biology

Senckenberg Research Institute and Natural History Museum Frankfurt/M
2014-2024

Goethe University Frankfurt
2021-2024

Jilin University
2023-2024

Goethe Institute
2022

University of Bonn
2008-2017

Senckenberg Society for Nature Research
2016

University of Tübingen
2002-2008

Matthew J. Christmas Irene M. Kaplow Diane P. Genereux Michael X. Dong Graham M. Hughes and 95 more Xue Li Patrick F. Sullivan Allyson G. Hindle Gregory Andrews Joel Armstrong Matteo Bianchi Ana M. Breit Mark Diekhans Cornelia Fanter Nicole M. Foley Daniel B. Goodman Linda Goodman Kathleen C. Keough Bogdan Kirilenko Amanda Kowalczyk Colleen Lawless Abigail Lind Jennifer R. S. Meadows Lucas R. Moreira Ruby Redlich Louise Ryan Ross Swofford Alejandro Valenzuela Franziska Wagner Ola Wallerman Ashley R. Brown Joana Damas Kaili Fan John Gatesy Jenna Grimshaw Jeremy Johnson Sergey V. Kozyrev Alyssa J. Lawler Voichita D. Marinescu Kathleen M. Morrill Austin Osmanski Nicole S. Paulat BaDoi N. Phan Steven K. Reilly Daniel E. Schäffer Cynthia Steiner Megan A. Supple Aryn P. Wilder Morgan Wirthlin James R. Xue Susan J. Birren Steven Gazal Robert Hubley Klaus‐Peter Koepfli Tomás Marquès‐Bonet Wynn K. Meyer Martin Nweeia Pardis C. Sabeti Beth Shapiro Arian F. A. Smit Mark S. Springer Emma C. Teeling Zhiping Weng Michael Hiller Danielle L. Levesque Harris A. Lewin William J. Murphy Arcadi Navarro Benedict Paten Katherine S. Pollard David A. Ray Irina Ruf Oliver A. Ryder Andreas R. Pfenning Kerstin Lindblad‐Toh Elinor K. Karlsson Gregory Andrews Joel Armstrong Matteo Bianchi Susan J. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey

Zoonomia is the largest comparative genomics resource for mammals produced to date. By aligning genomes 240 species, we identify bases that, when mutated, are likely affect fitness and alter disease risk. At least 332 million (~10.7%) in human genome unusually conserved across species (evolutionarily constrained) relative neutrally evolving repeats, 4552 ultraconserved elements nearly perfectly conserved. Of 101 significantly constrained single bases, 80% outside protein-coding exons half...

10.1126/science.abn3943 article EN Science 2023-04-27
Bogdan Kirilenko Chetan Munegowda Ekaterina Osipova David Jebb Virag Sharma and 95 more Moritz Blumer Ariadna E. Morales Alexis-Walid Ahmed Dimitrios ‐ Georgios Kontopoulos Leon Hilgers Kerstin Lindblad‐Toh Elinor K. Karlsson Michael Hiller Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan Patrick F. Sullivan

Annotating coding genes and inferring orthologs are two classical challenges in genomics evolutionary biology that have traditionally been approached separately, limiting scalability. We present TOGA (Tool to infer Orthologs from Genome Alignments), a method integrates structural gene annotation orthology inference. implements different paradigm orthologous loci, improves ortholog detection of conserved compared with state-of-the-art methods, handles even highly fragmented assemblies. scales...

10.1126/science.abn3107 article EN Science 2023-04-27
Nicole M. Foley Victor C. Mason Andrew J. Harris Kevin R. Bredemeyer Joana Damas and 95 more Harris A. Lewin Eduardo Eizirik John Gatesy Elinor K. Karlsson Kerstin Lindblad‐Toh Mark S. Springer William J. Murphy Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan Patrick F. Sullivan Elisabeth Sundström

The precise pattern and timing of speciation events that gave rise to all living placental mammals remain controversial. We provide a comprehensive phylogenetic analysis genetic variation across an alignment 241 mammal genome assemblies, addressing prior concerns regarding limited genomic sampling species. compared neutral genome-wide phylogenomic signals using concatenation coalescent-based approaches, interrogated chromosomes, analyzed extensive catalogs structural variants. Interordinal...

10.1126/science.abl8189 article EN Science 2023-04-27
Austin Osmanski Nicole S. Paulat Jennifer M. Korstian Jenna Grimshaw Michaela K. Halsey and 95 more Kevin A. Sullivan Diana D. Moreno-Santillán Claudia Crookshanks Jacquelyn Roberts Carlos J. Garcia Matthew G. Johnson Llewellyn D. Densmore Richard D. Stevens Jeb Rosen Jessica M. Storer Robert Hubley Arian F. A. Smit Liliana M. Dávalos Elinor K. Karlsson Kerstin Lindblad‐Toh David A. Ray Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres

We examined transposable element (TE) content of 248 placental mammal genome assemblies, the largest de novo TE curation effort in eukaryotes to date. found that although mammals resemble one another total and diversity, they show substantial differences with regard recent accumulation. This includes multiple expansion quiescence events across mammalian tree. Young TEs, particularly long interspersed elements, drive increases size, whereas DNA transposons are associated smaller genomes....

10.1126/science.abn1430 article EN Science 2023-04-27
Kathleen C. Keough Sean Whalen Fumitaka Inoue Pawel F. Przytycki Tyler Fair and 95 more Chengyu Deng Marilyn Steyert Hane Ryu Kerstin Lindblad‐Toh Elinor K. Karlsson Tomasz J. Nowakowski Nadav Ahituv Alex A. Pollen Katherine S. Pollard Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan

Human accelerated regions (HARs) are conserved genomic loci that evolved at an rate in the human lineage and may underlie human-specific traits. We generated HARs chimpanzee with automated pipeline alignment of 241 mammalian genomes. Combining deep learning chromatin capture experiments neural progenitor cells, we discovered a significant enrichment topologically associating domains containing variants change three-dimensional (3D) genome organization. Differential gene expression between...

10.1126/science.abm1696 article EN Science 2023-04-27
Aryn P. Wilder Megan A. Supple Ayshwarya Subramanian Anish Mudide Ross Swofford and 95 more Aitor Serres‐Armero Cynthia Steiner Klaus‐Peter Koepfli Diane P. Genereux Elinor K. Karlsson Kerstin Lindblad‐Toh Tomás Marquès‐Bonet Violeta Muñoz‐Fuentes Kathleen Foley Wynn K. Meyer Oliver A. Ryder Beth Shapiro Gregory Andrews Joel Armstrong Matteo Bianchi Susan J. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan

Species persistence can be influenced by the amount, type, and distribution of diversity across genome, suggesting a potential relationship between historical demography resilience. In this study, we surveyed genetic variation single genomes 240 mammals that compose Zoonomia alignment to evaluate how effective population size (

10.1126/science.abn5856 article EN Science 2023-04-27
Gregory Andrews Kaili Fan Henry Pratt Nishigandha Phalke Elinor K. Karlsson and 95 more Kerstin Lindblad‐Toh Steven Gazal Jill E. Moore Zhiping Weng Gregory Andrews Joel C. Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner Jessica M. Storer Kevin A. Sullivan Patrick F. Sullivan Elisabeth Sundström Megan A. Supple Ross Swofford Joy-El Talbot

Understanding the regulatory landscape of human genome is a long-standing objective modern biology. Using reference-free alignment across 241 mammalian genomes produced by Zoonomia Consortium, we charted evolutionary trajectories for 0.92 million candidate cis-regulatory elements (cCREs) and 15.6 transcription factor binding sites (TFBSs). We identified 439,461 cCREs 2,024,062 TFBSs under constraint. Genes near constrained perform fundamental cellular processes, whereas genes...

10.1126/science.abn7930 article EN Science 2023-04-27
Irene M. Kaplow Alyssa J. Lawler Daniel E. Schäffer Chaitanya Srinivasan Heather H. Sestili and 95 more Morgan Wirthlin BaDoi N. Phan Kavya Prasad Ashley R. Brown Xiaomeng Zhang Kathleen Foley Diane P. Genereux Elinor K. Karlsson Kerstin Lindblad‐Toh Wynn K. Meyer Andreas R. Pfenning Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner

Protein-coding differences between species often fail to explain phenotypic diversity, suggesting the involvement of genomic elements that regulate gene expression such as enhancers. Identifying associations enhancers and phenotypes is challenging because enhancer activity can be tissue-dependent functionally conserved despite low sequence conservation. We developed Tissue-Aware Conservation Inference Toolkit (TACIT) associate candidate with species' using predictions from machine learning...

10.1126/science.abm7993 article EN cc-by-sa Science 2023-04-27
James R. Xue Ava Mackay-Smith Kousuke Mouri Meilín Fernández García Michael X. Dong and 95 more Jared F. Akers Mark Noble Xue Li Kerstin Lindblad‐Toh Elinor K. Karlsson James P. Noonan Terence D. Capellini Kristen Brennand Ryan Tewhey Pardis C. Sabeti Steven K. Reilly Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan Oliver A. Ryder Pardis C. Sabeti Daniel E. Schäffer Aitor Serres Beth Shapiro Arian F. A. Smit Mark S. Springer Chaitanya Srinivasan Cynthia Steiner

Conserved genomic sequences disrupted in humans may underlie uniquely human phenotypic traits. We identified and characterized 10,032 human-specific conserved deletions (hCONDELs). These short (average 2.56 base pairs) are enriched for brain functions across genetic, epigenomic, transcriptomic datasets. Using massively parallel reporter assays six cell types, we discovered 800 hCONDELs conferring significant differences regulatory activity, half of which enhance rather than disrupt function....

10.1126/science.abn2253 article EN Science 2023-04-27

Primitive mammals are considered macrosmatic. They have very large and complicated nasal capsules, cavities with extensive olfactory epithelia, relatively bulbs. The structures of the capsule follow a conservative "bauplan," which is normally easy to see in earlier fetal stages; especially altricial taxa it differentiates well into postnatal life. As anteriormost part chondrocranium, at first cartilaginous. Most ossifies endochondrally, but "appositional bone" ("Zuwachsknochen") also common....

10.1002/ar.23023 article EN The Anatomical Record 2014-10-14
Joana Damas Marco Corbo Jaebum Kim Jason Turner-Maier Marta Farré and 95 more Denis M. Larkin Oliver A. Ryder Cynthia Steiner Marlys L. Houck Shaune Hall Lily Shiue Stephen G. Thomas Thomas Swale Mark J. Daly Jonas Korlach Marcela Uliano‐Silva Camila J. Mazzoni Bruce W. Birren Diane P. Genereux Jeremy Johnson Kerstin Lindblad‐Toh Elinor K. Karlsson Martin Nweeia Rebecca N. Johnson Harris A. Lewin Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf Louise Ryan

Decrypting the rearrangements that drive mammalian chromosome evolution is critical to understanding molecular bases of speciation, adaptation, and disease susceptibility. Using 8 scaffolded 26 chromosome-scale genome assemblies representing 23/26 mammal orders, we computationally reconstructed ancestral karyotypes syntenic relationships at 16 nodes along phylogeny. Three different reference genomes (human, sloth, cattle) phylogenetically distinct superorders were used assess bias in expand...

10.1073/pnas.2209139119 article EN cc-by Proceedings of the National Academy of Sciences 2022-09-26
Morgan Wirthlin Tobias A. Schmid Julie E. Elie Xiaomeng Zhang Amanda Kowalczyk and 95 more Ruby Redlich Varvara A. Shvareva Ashley Rakuljic Maria B. Ji Ninad S. Bhat Irene M. Kaplow Daniel E. Schäffer Alyssa J. Lawler Andrew Z. Wang BaDoi N. Phan Siddharth Annaldasula Ashley R. Brown Tianyu Lu Byung Kook Lim Eiman Azim Nathan L. Clark Wynn K. Meyer Sergei L. Kosakovsky Pond Maria Chikina Michael M. Yartsev Andreas R. Pfenning Gregory Andrews Joel Armstrong Matteo Bianchi Bruce W. Birren Kevin R. Bredemeyer Ana M. Breit Matthew J. Christmas Hiram Clawson Joana Damas Federica Di Palma Mark Diekhans Michael X. Dong Eduardo Eizirik Kaili Fan Cornelia Fanter Nicole M. Foley Karin Forsberg‐Nilsson Carlos J. Garcia John Gatesy Steven Gazal Diane P. Genereux Linda Goodman Jenna Grimshaw Michaela K. Halsey Andrew J. Harris Glenn Hickey Michael Hiller Allyson G. Hindle Robert Hubley Graham M. Hughes Jeremy Johnson David Juan Irene M. Kaplow Elinor K. Karlsson Kathleen C. Keough Bogdan Kirilenko Klaus‐Peter Koepfli Jennifer M. Korstian Amanda Kowalczyk Sergey V. Kozyrev Alyssa J. Lawler Colleen Lawless Thomas Lehmann Danielle L. Levesque Harris A. Lewin Xue Li Abigail Lind Kerstin Lindblad‐Toh Ava Mackay-Smith Voichita D. Marinescu Tomás Marquès‐Bonet Victor C. Mason Jennifer R. S. Meadows Wynn K. Meyer Jill E. Moore Lucas R. Moreira Diana D. Moreno-Santillán Kathleen M. Morrill Gerard Muntané William J. Murphy Arcadi Navarro Martin Nweeia Sylvia Ortmann Austin Osmanski Benedict Paten Nicole S. Paulat Andreas R. Pfenning BaDoi N. Phan Katherine S. Pollard Henry Pratt David A. Ray Steven K. Reilly Jeb Rosen Irina Ruf

Vocal production learning ("vocal learning") is a convergently evolved trait in vertebrates. To identify brain genomic elements associated with mammalian vocal learning, we integrated genomic, anatomical, and neurophysiological data from the Egyptian fruit bat (

10.1126/science.abn3263 article EN Science 2024-02-29

The coiled cochlea is a key evolutionary innovation of modern therian mammals. We report that the Late Jurassic mammal Dryolestes , relative to therians, has derived bony characteristics therian-like innervation, but its uncoiled cochlear canal less than therians. This suggests innervation evolved before fully in phylogeny. embryogenesis nerve and ganglion inner ear mice now known be patterned by neurogenic genes, which we hypothesize have influenced formation auditory evolution, as shown...

10.1098/rspb.2010.1148 article EN Proceedings of the Royal Society B Biological Sciences 2010-07-28

The circumstances of the evolution hypsodonty (= high-crowned teeth) are a bone contention. Hypsodonty is usually linked to diet abrasiveness, either from siliceous phytoliths (monocotyledons) or grit (dusty environments). However, any empirical quantitative approach testing relation ingested silica and lacking. In this study, faecal content was quantified as acid detergent insoluble ash used proxy for by large African herbivores different digestive types, feeding strategies levels. Separate...

10.1098/rspb.2010.1939 article EN cc-by Proceedings of the Royal Society B Biological Sciences 2010-11-10

The semicircular canals (SCs), part of the vestibular apparatus inner ear, are directly involved in detection angular motion head for maintaining balance, and exhibit adaptive patterns locomotor behaviour. Consequently, they generally believed to show low levels intraspecific morphological variation, but few studies have investigated this assumption. On basis high-resolution computed tomography, we present here, our knowledge, first comprehensive study pattern variation ear with a focus on...

10.1098/rspb.2012.1212 article EN Proceedings of the Royal Society B Biological Sciences 2012-08-01

The semicircular canals (SCs) of the inner ear detect angular acceleration and are located in bony labyrinth petrosal bone. Based on high-resolution computed tomography, we created a size-independent database 50 mammalian species especially rodents squirrel-related clade comprising taxa with fossorial, arboreal gliding adaptations. Our sampling also includes marsupials, actively flying bats, tree shrew subterranean species. morphometric anatomy SCs was correlated to locomotion mode. Even if...

10.1098/rspb.2015.0744 article EN Proceedings of the Royal Society B Biological Sciences 2015-05-27

Abstract The petrosal anatomy and inner ear structure of Jurassic cladotherian mammals represent the ancestral morphological conditions (groundplan) from which modern therian (marsupials placentals) have evolved. We present reconstruction features Late dryolestoid mammal Henkelotherium guimarotae high‐resolution computed tomography three‐dimensional imaging analysis. This study revealed a combination derived primitive features, including: apomorphies, such as promontorial sulcus for internal...

10.1111/j.1469-7580.2009.01059.x article EN Journal of Anatomy 2009-04-23

New isolated petrosals from the Itaboraí beds of Brazil (late Palaeocene or early Eocene) are here described and referred to diverging litoptern Miguelsoria parayirunhor, based on phylogenetic, size, abundance arguments. Both external internal anatomy these specimens were investigated, which for first time document many details auditory region a Palaeogene litoptern. Our cladistic analysis, included our new observations, failed recover monophyletic Litopterna but did not exclude it. A...

10.1111/zoj.12219 article EN Zoological Journal of the Linnean Society 2015-02-04

Dryolestes leiriensis is a Late Jurassic fossil mammal of the dryolestoid superfamily in cladotherian clade that includes extant marsupials and placentals. We used high resolution micro-computed tomography (µ CT) scanning digital reconstruction virtual endocast inner ear to show its cochlear canal coiled through 270°, has cribriform plate with spiral nerve foramina between internal acoustic meatus bony labyrinth. The primary lamina for basilar membrane partially formed (or preserved)...

10.1111/j.1096-3642.2012.00852.x article EN Zoological Journal of the Linnean Society 2012-09-28

ABSTRACT The docodont Haldanodon exspectatus, a mammaliaform from the Late Jurassic of Portugal, is crucial taxon for studying higher-level relationships mammaliaforms and their morphological evolution. Based on high-resolution computed tomography scanning three specimens Haldanodon, we developed new reconstruction basicranium including petrosal inner ear. Our study confirms that other basal mammaliaforms, such as Morganucodon Sinoconodon, are similar in main characteristics external anatomy...

10.1080/02724634.2013.722575 article EN Journal of Vertebrate Paleontology 2013-03-01
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