| Títol: | Human inversions and their functional consequences |
|---|---|
| Autor/a: | Puig Font, Marta; Casillas Viladerrams, Sònia; Villatoro, Sergi; Cáceres Aguilar, Mario |
| Abstract: | Polymorphic inversions are a type of structural variants that are difficult to analyze owing to their balanced nature and the location of breakpoints within complex repeated regions. So far, only a handful of inversions have been studied in detail in humans and current knowledge about their possible functional effects is still limited. However, inversions have been related to phenotypic changes and adaptation in multiple species. In this review, we summarize the evidences of the functional impact of inversions in the human genome. First, given that inversions have been shown to inhibit recombination in heterokaryotes, chromosomes displaying different orientation are expected to evolve independently and this may lead to distinct gene-expression patterns. Second, inversions have a role as disease-causing mutations both by directly affecting gene structure or regulation in different ways, and by predisposing to other secondary arrangements in the offspring of inversion carriers. Finally, several inversions show signals of being selected during human evolution. These findings illustrate the potential of inversions to have phenotypic consequences also in humans and emphasize the importance of their inclusion in genome-wide association studies |
| Matèries: | -Inversions -Human genome -Ghenotypic effects -Disease -Gene expression -Evolution |
| Drets: | open access
Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0/ |
| Tipus de document: | Article |
| Publicat per: | |
| Compartir: |
|
| Uri: | https://ddd.uab.cat/record/225164 |
Documents relacionats
Altres documents del mateix autor/a
Martínez Fundichely, Alexander; Casillas Viladerrams, Sònia; Egea, Raquel; Ràmia Jesús, Miquel; Barbadilla Prados, Antonio; Pantano, Lorena; Puig Font, Marta; Cáceres Aguilar, Mario
Aguado, Cristina; Gayà Vidal, Magdalena; Villatoro, Sergi; Oliva Pavia, Meritxell; Izquierdo, David; Giner-Delgado, Carla; Montalvo, Víctor; García González, Judit; Martínez Fundichely, Alexander; Capilla Pérez, Laia; Ruiz-Herrera Moreno, Aurora; Estivill, Xavier; Puig Font, Marta
Aguado, Cristina; Gayà Vidal, Magdalena; Villatoro, Sergi; Oliva, Meritxell; Izquierdo, David; Giner Delgado, Carla; Montalvo, Víctor; García González, Judit; Martínez Fundichely, Alexander, 1978-; Capilla, Laia; Ruiz Herrera, Aurora; Estivill, Xavier, 1955-; Puig, Marta; Cáceres Aguilar, Mario
Maggiolini, Flavia Angela Maria; Sanders, Ashley D.; Shew, Colin James; Sulovari, Arvis; Mao, Yafei; Puig Font, Marta; Catacchio, Claudia Rita; Dellino, Maria; Palmisano, Donato; Mercuri, Ludovica; Bitonto, Miriana; Porubský, David; Cáceres Aguilar, Mario; Eichler, Evan E.; Ventura, Mario; Dennis, Megan Y.; Korbel, Jan O.; Antonacci, Francesca
Puig Font, Marta; Lerga Jaso, Jon; Giner-Delgado, Carla; Pacheco, Sarai; Izquierdo, David; Delprat Obeaga, Alejandra; Gayà Vidal, Magdalena; Regan, Jack F.; Karlin Neumann, George; Cáceres Aguilar, Mario