Literature DB >> 32132541

Differential DNA methylation of vocal and facial anatomy genes in modern humans.

David Gokhman1, Malka Nissim-Rafinia2, Lily Agranat-Tamir2,3, Genevieve Housman4,5, Raquel García-Pérez6, Esther Lizano6, Olivia Cheronet7, Swapan Mallick8,9,10, Maria A Nieves-Colón4,5, Heng Li8, Songül Alpaslan-Roodenberg9, Mario Novak11,12, Hongcang Gu8, Jason M Osinski13, Manuel Ferrando-Bernal6, Pere Gelabert6, Iddi Lipende14, Deus Mjungu14, Ivanela Kondova15, Ronald Bontrop15, Ottmar Kullmer16, Gerhard Weber7, Tal Shahar17, Mona Dvir-Ginzberg18, Marina Faerman19, Ellen E Quillen20, Alexander Meissner8,21,22, Yonatan Lahav23,24, Leonid Kandel25, Meir Liebergall25, María E Prada26, Julio M Vidal27, Richard M Gronostajski13,28, Anne C Stone4,5,29, Benjamin Yakir3, Carles Lalueza-Fox6, Ron Pinhasi7, David Reich8,9,10, Tomas Marques-Bonet6,30,31,32, Eran Meshorer33,34, Liran Carmel35.   

Abstract

Changes in potential regulatory elements are thought to be key drivers of phenotypic divergence. However, identifying changes to regulatory elements that underlie human-specific traits has proven very challenging. Here, we use 63 reconstructed and experimentally measured DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that likely emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes associated with face and vocal tract anatomy went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-associated genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract.

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Year:  2020        PMID: 32132541      PMCID: PMC7055320          DOI: 10.1038/s41467-020-15020-6

Source DB:  PubMed          Journal:  Nat Commun        ISSN: 2041-1723            Impact factor:   14.919


  55 in total

Review 1.  Evolution at two levels in humans and chimpanzees.

Authors:  M C King; A C Wilson
Journal:  Science       Date:  1975-04-11       Impact factor: 47.728

2.  Genome sequence of a 45,000-year-old modern human from western Siberia.

Authors:  Qiaomei Fu; Heng Li; Priya Moorjani; Flora Jay; Sergey M Slepchenko; Aleksei A Bondarev; Philip L F Johnson; Ayinuer Aximu-Petri; Kay Prüfer; Cesare de Filippo; Matthias Meyer; Nicolas Zwyns; Domingo C Salazar-García; Yaroslav V Kuzmin; Susan G Keates; Pavel A Kosintsev; Dmitry I Razhev; Michael P Richards; Nikolai V Peristov; Michael Lachmann; Katerina Douka; Thomas F G Higham; Montgomery Slatkin; Jean-Jacques Hublin; David Reich; Janet Kelso; T Bence Viola; Svante Pääbo
Journal:  Nature       Date:  2014-10-23       Impact factor: 49.962

3.  The complete genome sequence of a Neanderthal from the Altai Mountains.

Authors:  Kay Prüfer; Fernando Racimo; Nick Patterson; Flora Jay; Sriram Sankararaman; Susanna Sawyer; Anja Heinze; Gabriel Renaud; Peter H Sudmant; Cesare de Filippo; Heng Li; Swapan Mallick; Michael Dannemann; Qiaomei Fu; Martin Kircher; Martin Kuhlwilm; Michael Lachmann; Matthias Meyer; Matthias Ongyerth; Michael Siebauer; Christoph Theunert; Arti Tandon; Priya Moorjani; Joseph Pickrell; James C Mullikin; Samuel H Vohr; Richard E Green; Ines Hellmann; Philip L F Johnson; Hélène Blanche; Howard Cann; Jacob O Kitzman; Jay Shendure; Evan E Eichler; Ed S Lein; Trygve E Bakken; Liubov V Golovanova; Vladimir B Doronichev; Michael V Shunkov; Anatoli P Derevianko; Bence Viola; Montgomery Slatkin; David Reich; Janet Kelso; Svante Pääbo
Journal:  Nature       Date:  2013-12-18       Impact factor: 49.962

4.  Ancient human genomes suggest three ancestral populations for present-day Europeans.

Authors:  Iosif Lazaridis; Nick Patterson; Alissa Mittnik; Gabriel Renaud; Swapan Mallick; Karola Kirsanow; Peter H Sudmant; Joshua G Schraiber; Sergi Castellano; Mark Lipson; Bonnie Berger; Christos Economou; Ruth Bollongino; Qiaomei Fu; Kirsten I Bos; Susanne Nordenfelt; Heng Li; Cesare de Filippo; Kay Prüfer; Susanna Sawyer; Cosimo Posth; Wolfgang Haak; Fredrik Hallgren; Elin Fornander; Nadin Rohland; Dominique Delsate; Michael Francken; Jean-Michel Guinet; Joachim Wahl; George Ayodo; Hamza A Babiker; Graciela Bailliet; Elena Balanovska; Oleg Balanovsky; Ramiro Barrantes; Gabriel Bedoya; Haim Ben-Ami; Judit Bene; Fouad Berrada; Claudio M Bravi; Francesca Brisighelli; George B J Busby; Francesco Cali; Mikhail Churnosov; David E C Cole; Daniel Corach; Larissa Damba; George van Driem; Stanislav Dryomov; Jean-Michel Dugoujon; Sardana A Fedorova; Irene Gallego Romero; Marina Gubina; Michael Hammer; Brenna M Henn; Tor Hervig; Ugur Hodoglugil; Aashish R Jha; Sena Karachanak-Yankova; Rita Khusainova; Elza Khusnutdinova; Rick Kittles; Toomas Kivisild; William Klitz; Vaidutis Kučinskas; Alena Kushniarevich; Leila Laredj; Sergey Litvinov; Theologos Loukidis; Robert W Mahley; Béla Melegh; Ene Metspalu; Julio Molina; Joanna Mountain; Klemetti Näkkäläjärvi; Desislava Nesheva; Thomas Nyambo; Ludmila Osipova; Jüri Parik; Fedor Platonov; Olga Posukh; Valentino Romano; Francisco Rothhammer; Igor Rudan; Ruslan Ruizbakiev; Hovhannes Sahakyan; Antti Sajantila; Antonio Salas; Elena B Starikovskaya; Ayele Tarekegn; Draga Toncheva; Shahlo Turdikulova; Ingrida Uktveryte; Olga Utevska; René Vasquez; Mercedes Villena; Mikhail Voevoda; Cheryl A Winkler; Levon Yepiskoposyan; Pierre Zalloua; Tatijana Zemunik; Alan Cooper; Cristian Capelli; Mark G Thomas; Andres Ruiz-Linares; Sarah A Tishkoff; Lalji Singh; Kumarasamy Thangaraj; Richard Villems; David Comas; Rem Sukernik; Mait Metspalu; Matthias Meyer; Evan E Eichler; Joachim Burger; Montgomery Slatkin; Svante Pääbo; Janet Kelso; David Reich; Johannes Krause
Journal:  Nature       Date:  2014-09-18       Impact factor: 49.962

5.  Inferring Past Environments from Ancient Epigenomes.

Authors:  David Gokhman; Anat Malul; Liran Carmel
Journal:  Mol Biol Evol       Date:  2017-10-01       Impact factor: 16.240

6.  Gene ORGANizer: linking genes to the organs they affect.

Authors:  David Gokhman; Guy Kelman; Adir Amartely; Guy Gershon; Shira Tsur; Liran Carmel
Journal:  Nucleic Acids Res       Date:  2017-07-03       Impact factor: 16.971

7.  A high-coverage Neandertal genome from Vindija Cave in Croatia.

Authors:  Kay Prüfer; Cesare de Filippo; Steffi Grote; Fabrizio Mafessoni; Petra Korlević; Mateja Hajdinjak; Benjamin Vernot; Laurits Skov; Pinghsun Hsieh; Stéphane Peyrégne; David Reher; Charlotte Hopfe; Sarah Nagel; Tomislav Maricic; Qiaomei Fu; Christoph Theunert; Rebekah Rogers; Pontus Skoglund; Manjusha Chintalapati; Michael Dannemann; Bradley J Nelson; Felix M Key; Pavao Rudan; Željko Kućan; Ivan Gušić; Liubov V Golovanova; Vladimir B Doronichev; Nick Patterson; David Reich; Evan E Eichler; Montgomery Slatkin; Mikkel H Schierup; Aida M Andrés; Janet Kelso; Matthias Meyer; Svante Pääbo
Journal:  Science       Date:  2017-10-05       Impact factor: 47.728

8.  Enhancer divergence and cis-regulatory evolution in the human and chimp neural crest.

Authors:  Sara L Prescott; Rajini Srinivasan; Maria Carolina Marchetto; Irina Grishina; Iñigo Narvaiza; Licia Selleri; Fred H Gage; Tomek Swigut; Joanna Wysocka
Journal:  Cell       Date:  2015-09-10       Impact factor: 41.582

9.  Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.

Authors:  Iñigo Olalde; Morten E Allentoft; Federico Sánchez-Quinto; Gabriel Santpere; Charleston W K Chiang; Michael DeGiorgio; Javier Prado-Martinez; Juan Antonio Rodríguez; Simon Rasmussen; Javier Quilez; Oscar Ramírez; Urko M Marigorta; Marcos Fernández-Callejo; María Encina Prada; Julio Manuel Vidal Encinas; Rasmus Nielsen; Mihai G Netea; John Novembre; Richard A Sturm; Pardis Sabeti; Tomàs Marquès-Bonet; Arcadi Navarro; Eske Willerslev; Carles Lalueza-Fox
Journal:  Nature       Date:  2014-01-26       Impact factor: 49.962

10.  Genome-wide patterns of selection in 230 ancient Eurasians.

Authors:  Iain Mathieson; Iosif Lazaridis; Nadin Rohland; Swapan Mallick; Nick Patterson; Songül Alpaslan Roodenberg; Eadaoin Harney; Kristin Stewardson; Daniel Fernandes; Mario Novak; Kendra Sirak; Cristina Gamba; Eppie R Jones; Bastien Llamas; Stanislav Dryomov; Joseph Pickrell; Juan Luís Arsuaga; José María Bermúdez de Castro; Eudald Carbonell; Fokke Gerritsen; Aleksandr Khokhlov; Pavel Kuznetsov; Marina Lozano; Harald Meller; Oleg Mochalov; Vyacheslav Moiseyev; Manuel A Rojo Guerra; Jacob Roodenberg; Josep Maria Vergès; Johannes Krause; Alan Cooper; Kurt W Alt; Dorcas Brown; David Anthony; Carles Lalueza-Fox; Wolfgang Haak; Ron Pinhasi; David Reich
Journal:  Nature       Date:  2015-11-23       Impact factor: 49.962

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  16 in total

1.  Fish as Model Systems to Study Epigenetic Drivers in Human Self-Domestication and Neurodevelopmental Cognitive Disorders.

Authors:  Dafni Anastasiadi; Francesc Piferrer; Maren Wellenreuther; Antonio Benítez Burraco
Journal:  Genes (Basel)       Date:  2022-05-31       Impact factor: 4.141

2.  Intraspecific and interspecific investigations of skeletal DNA methylation and femur morphology in primates.

Authors:  Genevieve Housman; Ellen E Quillen; Anne C Stone
Journal:  Am J Phys Anthropol       Date:  2020-03-14       Impact factor: 2.868

Review 3.  The regulation mechanisms and the Lamarckian inheritance property of DNA methylation in animals.

Authors:  Yulong Li; Yujing Xu; Tongxu Liu; Hengyi Chang; Xiaojun Yang
Journal:  Mamm Genome       Date:  2021-04-15       Impact factor: 2.957

4.  Epigenomic profiling of primate lymphoblastoid cell lines reveals the evolutionary patterns of epigenetic activities in gene regulatory architectures.

Authors:  Raquel García-Pérez; Paula Esteller-Cucala; David Juan; Tomàs Marquès-Bonet; Glòria Mas; Irene Lobón; Valerio Di Carlo; Meritxell Riera; Martin Kuhlwilm; Arcadi Navarro; Antoine Blancher; Luciano Di Croce; José Luis Gómez-Skarmeta
Journal:  Nat Commun       Date:  2021-05-25       Impact factor: 14.919

5.  The cis-regulatory effects of modern human-specific variants.

Authors:  Carly V Weiss; Lana Harshman; Fumitaka Inoue; Hunter B Fraser; Dmitri A Petrov; Nadav Ahituv; David Gokhman
Journal:  Elife       Date:  2021-04-22       Impact factor: 8.713

6.  Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.

Authors:  Carolina Makowski; Dennis van der Meer; Weixiu Dong; Hao Wang; Yan Wu; Jingjing Zou; Cin Liu; Sara B Rosenthal; Donald J Hagler; Chun Chieh Fan; William S Kremen; Ole A Andreassen; Terry L Jernigan; Anders M Dale; Kun Zhang; Peter M Visscher; Jian Yang; Chi-Hua Chen
Journal:  Science       Date:  2022-02-03       Impact factor: 63.714

Review 7.  DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms.

Authors:  Loredana Poeta; Denise Drongitis; Lucia Verrillo; Maria Giuseppina Miano
Journal:  Genes (Basel)       Date:  2020-06-22       Impact factor: 4.096

8.  Divergence in alternative polyadenylation contributes to gene regulatory differences between humans and chimpanzees.

Authors:  Briana E Mittleman; Sebastian Pott; Shane Warland; Kenneth Barr; Claudia Cuevas; Yoav Gilad
Journal:  Elife       Date:  2021-02-17       Impact factor: 8.140

9.  The vocal tract as a time machine: inferences about past speech and language from the anatomy of the speech organs.

Authors:  Dan Dediu; Scott R Moisik; W A Baetsen; Abel Marinus Bosman; Andrea L Waters-Rist
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2021-03-22       Impact factor: 6.237

Review 10.  Epigenomic Modifications in Modern and Ancient Genomes.

Authors:  Laura Niiranen; Dawid Leciej; Hanna Edlund; Carolina Bernhardsson; Magdalena Fraser; Federico Sánchez Quinto; Karl-Heinz Herzig; Mattias Jakobsson; Jarosław Walkowiak; Olaf Thalmann
Journal:  Genes (Basel)       Date:  2022-01-20       Impact factor: 4.096

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