The mole genome reveals regulatory rearrangements associated with adaptive intersexuality-Reference-Cited by-同舟云学术

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

Published:2020-10-09 Issue:6513 Volume:370 Page:208-214
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

M. Real Francisca¹²^ORCID,Haas Stefan A.³^ORCID,Franchini Paolo⁴^ORCID,Xiong Peiwen⁴^ORCID,Simakov Oleg⁵^ORCID,Kuhl Heiner⁶^ORCID,Schöpflin Robert¹²,Heller David³^ORCID,Moeinzadeh M-Hossein³^ORCID,Heinrich Verena³^ORCID,Krannich Thomas³^ORCID,Bressin Annkatrin³^ORCID,Hartmann Michaela F.⁷^ORCID,Wudy Stefan A.⁷^ORCID,Dechmann Dina K. N.⁸⁹^ORCID,Hurtado Alicia¹⁰¹¹^ORCID,Barrionuevo Francisco J.¹⁰¹¹^ORCID,Schindler Magdalena¹²^ORCID,Harabula Izabela¹^ORCID,Osterwalder Marco¹²¹³^ORCID,Hiller Michael¹⁴¹⁵¹⁶^ORCID,Wittler Lars¹⁷,Visel Axel¹²¹⁸¹⁹^ORCID,Timmermann Bernd¹,Meyer Axel⁴^ORCID,Vingron Martin³^ORCID,Jiménez Rafael¹⁰¹¹,Mundlos Stefan¹²²⁰^ORCID,Lupiáñez Darío G.¹²²⁰²¹^ORCID

Affiliation:

1. RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.

2. Institute for Medical and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.

3. Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany.

4. Chair in Zoology and Evolutionary Biology, Department of Biology, University of Konstanz, 78457 Konstanz, Germany.

5. Department of Molecular Evolution and Development, University of Vienna, 1090 Vienna, Austria.

6. Department of Ecophysiology and Aquaculture, Leibniz-Institute of Freshwater Ecology and Inland Fisheries, Berlin, Germany.

7. Steroid Research & Mass Spectrometry Unit, Laboratory for Translational Hormone Analytics in Paediatric Endocrinology, Division of Paediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.

8. Department of Migration and Immuno-Ecology, Max Planck Institute for Animal Behavior, Radolfzell, Germany.

9. Department of Biology, University of Konstanz, Konstanz, Germany.

10. Departamento de Genética, Universidad de Granada, Granada, Spain.

11. Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Armilla, Granada, Spain.

12. Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA.

13. Department for BioMedical Research (DBMR), University of Bern, 3008 Bern, Switzerland.

14. Max Planck Institute of Molecular Cell Biology and Genetics, 01307 Dresden, Germany.

15. Max Planck Institute for the Physics of Complex Systems, 01187 Dresden, Germany.

16. Center for Systems Biology Dresden, 01307 Dresden, Germany.

17. Department of Developmental Genetics, Transgenic Unit, Max Planck Institute for Molecular Genetics, Berlin, Germany.

18. U.S. Department of Energy Joint Genome Institute, Berkeley, CA 94720, USA.

19. School of Natural Sciences, University of California, Merced, CA 95343, USA.

20. Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.

21. Epigenetics and Sex Development Group, Berlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.

Abstract

Intersexuality in female moles Female moles are intersexual and develop masculinizing ovotestes, a distinctive trait among mammals. Real et al. investigated the origin of this trait by sequencing the Iberian mole genome and applying comparative strategies that integrate transcriptomic, epigenetic, and chromatin interaction data. They identified mole-specific genomic rearrangements that alter the three-dimensional regulatory landscape of the androgen-converting gene CYP17A1 and the pro-testicular factor gene FGF9 , both of which show distinct expression patterns in mole gonads. The use of transgenic mice confirms the capability of these factors to increase circulating testosterone levels and to induce gonadal masculinization. This study highlights how integrative approaches can reveal the phenotypic impact of genomic variation. Science , this issue p. 208

Funder

Fundación Alfonso Martín Escudero

Deutsche Forschungsgemeinschaft

Max-Planck-Gesellschaft

Helmholtz Association

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference100 articles.

1. Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs

2. Adaptive Evolution of Pelvic Reduction in Sticklebacks by Recurrent Deletion of a Pitx1 Enhancer