Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine

Article Article scientifique Article Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine eng 2013-05-14 2013-05-14 author Guerreiro Isabel 0000-0003-1390-3535 Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal; 744873 author Pereira Nunes Andreia Filipa 0000-0001-9996-013X Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal; 920973 author Woltering Joost Department of Genetics and Evolution, University of Geneva, Sciences III, 1211 Geneva 4, Switzerland; 668883 author Casaca Ana 0000-0002-0706-8038 Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal; author Nóvoa Ana Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal; author Vinagre Tânia Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal; author Hunter Margaret E. Southeast Ecological Science Center, US Geological Survey, Gainesville, FL 32653; author Duboule Denis 0000-0001-9961-2960 Department of Genetics and Evolution, University of Geneva, Sciences III, 1211 Geneva 4, Switzerland; 28643 Département de génétique et évolution (Genev) (BIANI) author Mallo Moisés Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal; 10682-10686 10.1073/pnas.1300592110 23674686 0027-8424 PMC3696775 https://pnas.org/doi/full/10.1073/pnas.1300592110 <p>Patterning of the vertebrate skeleton requires the coordinated activity of Hox genes. In particular, Hox10 proteins are essential to set the transition from thoracic to lumbar vertebrae because of their rib-repressing activity. In snakes, however, the thoracic region extends well into Hox10-expressing areas of the embryo, suggesting that these proteins are unable to block rib formation. Here, we show that this is not a result of the loss of rib-repressing properties by the snake proteins, but rather to a single base pair change in a Hox/Paired box (Pax)-responsive enhancer, which prevents the binding of Hox proteins. This polymorphism is also found in Paenungulata, such as elephants and manatees, which have extended rib cages. In vivo, this modified enhancer failed to respond to Hox10 activity, supporting its role in the extension of rib cages. In contrast, the enhancer could still interact with Hoxb6 and Pax3 to promote rib formation. These results suggest that a polymorphism in the Hox/Pax-responsive enhancer may have played a role in the evolution of the vertebrate spine by differently modulating its response to rib-suppressing and rib-promoting Hox proteins.</p> Axial skeleton Gene regulation Vertebrate patterning Dewey 590 44 Département de génétique et évolution 162 false Proceedings of the National Academy of Sciences of the United States of America 110 26 8b158ad6-b57a-4241-821a-a2ae9e3842be Article (Published version) Restricted Article-scientifique-from-unpaywall.pdf 1381703 application/pdf 3beb9a3cfc7430183d970bd2b6b03ebcfa81b255ff546f96941ef0e0ccd7d955 restrictedAccess Faculté des sciences / Section de biologie / Département de génétique et évolution

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Role of a polymorphism in a Hox/Pax-responsive enhancer in the evolution of the vertebrate spine	Proceedings of the National Academy of Sciences of the United States of America			2013	85	0

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Pereira Nunes, Andreia Filipa