Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

Author:

Zanella Matteo12ORCID,Vitriolo Alessandro12ORCID,Andirko Alejandro34ORCID,Martins Pedro Tiago34ORCID,Sturm Stefanie34ORCID,O’Rourke Thomas34ORCID,Laugsch Magdalena567,Malerba Natascia8,Skaros Adrianos12ORCID,Trattaro Sebastiano12ORCID,Germain Pierre-Luc129ORCID,Mihailovic Marija12ORCID,Merla Giuseppe8ORCID,Rada-Iglesias Alvaro51011,Boeckx Cedric3412ORCID,Testa Giuseppe1213ORCID

Affiliation:

1. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.

2. Laboratory of Stem Cell Epigenetics, IEO, European Institute of Oncology, IRCCS, Milan, Italy.

3. University of Barcelona, Barcelona, Spain.

4. University of Barcelona Institute of Complex Systems (UBICS), Barcelona, Spain.

5. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

6. Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.

7. Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.

8. Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

9. D-HEST Institute for Neuroscience, ETH Zürich, Switzerland.

10. Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Germany.

11. Institute of Biomedicine and Biotechnology of Cantabria, University of Cantabria, Cantabria, Spain.

12. Catalan Institute for Advanced Studies and Research (ICREA), Barcelona, Spain.

13. Human Technopole, Center for Neurogenomics, Via Cristina Belgioioso 171, Milan, Italy.

Abstract

Dissecting the BAZ1B genetic circuitry in the neural crest brings out its critical role in shaping the modern human face.

Funder

Ministry of Health

European Research Council

Fondazione Telethon

Generalitat de Catalunya

Fondazione Umberto Veronesi

European Social Fund

Spanish Ministry of Economy and Competitiveness

MEXT/JSPS Grant-in-Aid for Scientific Research on Innovative Areas 4903

Marie Curie International Reintegration Grant from the European Union

EPIGEN Flagship Project of the Italian National Research Council

Horizon 2020

Ricerca Corrente granted by the Italian Ministry of Health

IEO Foundation

Portuguese Foundation for Science and Technology

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference89 articles.

1. Self-domestication in Homo sapiens: Insights from comparative genomics;Theofanopoulou C.;PLOS ONE,2017

2. Survival of the Friendliest: Homo sapiens Evolved via Selection for Prosociality

3. R. W. Wrangham The Goodness Paradox: How Evolution Made Us Both More and Less Violent (Profile Books Ltd. 2019).

4. Evaluating the self-domestication hypothesis of human evolution;Sánchez-Villagra M. R.;Evol. Anthropol.,2019

5. The “domestication syndrome” in mammals: A unified explanation based on neural crest cell behavior and genetics;Wilkins A. S.;Genetics,2014

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