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Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Xander Nuttle, Giuliana Giannuzzi, Michael H. Duyzend, Joshua G. Schraiber, Iñigo Narvaiza, Peter H. Sudmant, Osnat Penn, Giorgia Chiatante, Maika Malig, John Huddleston, Chris Benner, Francesca Camponeschi, Simone Ciofi-Baffoni, Holly A. F. Stessman, Maria C. N. Marchetto, Laura Denman, Lana Harshman, Carl Baker, Archana Raja, Kelsi Penewit, Nicolette Janke, W. Joyce Tang, Mario Ventura, Lucia Banci, Francesca Antonacci, Joshua M. Akey, Chris T. Amemiya, Fred H. Gage, Alexandre Reymond () and Evan E. Eichler ()
Additional contact information
Xander Nuttle: University of Washington School of Medicine
Giuliana Giannuzzi: Center for Integrative Genomics, University of Lausanne
Michael H. Duyzend: University of Washington School of Medicine
Joshua G. Schraiber: University of Washington School of Medicine
Iñigo Narvaiza: Laboratory of Genetics, The Salk Institute for Biological Studies
Peter H. Sudmant: University of Washington School of Medicine
Osnat Penn: University of Washington School of Medicine
Giorgia Chiatante: Università degli Studi di Bari ‘Aldo Moro’
Maika Malig: University of Washington School of Medicine
John Huddleston: University of Washington School of Medicine
Chris Benner: Laboratory of Genetics, The Salk Institute for Biological Studies
Francesca Camponeschi: University of Florence
Simone Ciofi-Baffoni: University of Florence
Holly A. F. Stessman: University of Washington School of Medicine
Maria C. N. Marchetto: Laboratory of Genetics, The Salk Institute for Biological Studies
Laura Denman: University of Washington School of Medicine
Lana Harshman: University of Washington School of Medicine
Carl Baker: University of Washington School of Medicine
Archana Raja: University of Washington School of Medicine
Kelsi Penewit: University of Washington School of Medicine
Nicolette Janke: University of Washington School of Medicine
W. Joyce Tang: Benaroya Research Institute at Virginia Mason
Mario Ventura: Università degli Studi di Bari ‘Aldo Moro’
Lucia Banci: University of Florence
Francesca Antonacci: Università degli Studi di Bari ‘Aldo Moro’
Joshua M. Akey: University of Washington School of Medicine
Chris T. Amemiya: Benaroya Research Institute at Virginia Mason
Fred H. Gage: Laboratory of Genetics, The Salk Institute for Biological Studies
Alexandre Reymond: Center for Integrative Genomics, University of Lausanne
Evan E. Eichler: University of Washington School of Medicine

Nature, 2016, vol. 536, issue 7615, 205-209

Abstract: Reconstruction of the evolutionary history of the chromosome 16p11.2 locus and identification of bolA family member 2 (BOLA2) as a gene duplicated exclusively in Homo sapiens.

Date: 2016
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DOI: 10.1038/nature19075

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