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Loss of flight in the Galapagos cormorant mirrors human skeletal ciliopathies

Alejandro Burga, Weiguang Wang, Paul C. Wolf, Andrew M. Ramey, Claudio Verdugo, Karen Lyons, Patricia G. Parker, Leonid Kruglyak
doi: https://doi.org/10.1101/061432
Alejandro Burga
†Departments of Human Genetics and Biological Chemistry, UCLA, Los Angeles, USA & Howard Hughes Medical Institute (HHMI).
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Weiguang Wang
‡Departments of Molecular, Cell and Developmental Biology and Orthopaedic Surgery, UCLA and Orthopaedic Institute for Children, Los Angeles, USA
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Paul C. Wolf
¶United States Department of Agriculture/Wildlife Services
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Andrew M. Ramey
§U.S. Geological Survey Alaska Science Center, Alaska, USA
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Claudio Verdugo
‖Instituto de Patologia Animal, Facultad de Ciencias Veterinarias, Universidad Austral de Chile, Valdivia, Chile
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Karen Lyons
‡Departments of Molecular, Cell and Developmental Biology and Orthopaedic Surgery, UCLA and Orthopaedic Institute for Children, Los Angeles, USA
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Patricia G. Parker
⊥Department of Biology and Whitney Harris World Ecology Center University of Missouri-St. Louis, USA
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Leonid Kruglyak
#Departments of Human Genetics and Biological Chemistry, UCLA, Los Angeles, & USA Howard Hughes Medical Institute (HHMI)
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Abstract

Changes in the size and proportion of limbs and other structures have played a key role in the adaptive evolution of species. However, despite the ubiquity of these modifications, we have a very limited idea of how these changes occur on the genetic and molecular levels. To fill this gap, we studied a recent and extreme case of wing and pectoral skeleton size reduction leading to flightlessness in the Galapagos cormorant (Phalacrocorax harrisi). We sequenced and de novo assembled the genomes of four closely related cormorant species and applied a joint predictive and comparative genomics approach to find candidate variants. Here we report that function-altering variants in genes necessary for both the correct transcriptional regulation and function of the primary cilium contributed to the evolution of loss of flight in P. harrisi. Cilia are essential for Hedgehog signaling, and humans affected by skeletal ciliopathies suffer from premature arrest of bone growth, mirroring the skeletal features associated with loss of flight.

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Posted July 02, 2016.
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Loss of flight in the Galapagos cormorant mirrors human skeletal ciliopathies
Alejandro Burga, Weiguang Wang, Paul C. Wolf, Andrew M. Ramey, Claudio Verdugo, Karen Lyons, Patricia G. Parker, Leonid Kruglyak
bioRxiv 061432; doi: https://doi.org/10.1101/061432
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Loss of flight in the Galapagos cormorant mirrors human skeletal ciliopathies
Alejandro Burga, Weiguang Wang, Paul C. Wolf, Andrew M. Ramey, Claudio Verdugo, Karen Lyons, Patricia G. Parker, Leonid Kruglyak
bioRxiv 061432; doi: https://doi.org/10.1101/061432

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