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Polymorphic transposable elements provide new insights on high-altitude adaptation in the Tibetan Plateau.
Modenini, Giorgia; Abondio, Paolo; Sazzini, Marco; Boattini, Alessio.
  • Modenini G; Dept. of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy. Electronic address: giorgia.modenini2@unibo.it.
  • Abondio P; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy.
  • Sazzini M; Dept. of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy; Interdepartmental Centre - Alma Mater Research Institute on Global Changes and Climate Change, University of Bologna, Italy.
  • Boattini A; Dept. of Biological, Geological and Environmental Sciences, University of Bologna, Bologna, Italy.
Genomics ; 116(3): 110854, 2024 05.
Article en En | MEDLINE | ID: mdl-38701989
ABSTRACT
Several studies demonstrated that populations living in the Tibetan plateau are genetically and physiologically adapted to high-altitude conditions, showing genomic signatures ascribable to the action of natural selection. However, so far most of them relied solely on inferences drawn from the analysis of coding variants and point mutations. To fill this gap, we focused on the possible role of polymorphic transposable elements in influencing the adaptation of Tibetan and Sherpa highlanders. To do so, we compared high-altitude and middle/low-lander individuals of East Asian ancestry by performing in silico analyses and differentiation tests on 118 modern and ancient samples. We detected several transposable elements associated with high altitude, which map genes involved in cardiovascular, hematological, chem-dependent and respiratory conditions, suggesting that metabolic and signaling pathways taking part in these functions are disproportionately impacted by the effect of environmental stressors in high-altitude individuals. To our knowledge, our study is the first hinting to a possible role of transposable elements in the adaptation of Tibetan and Sherpa highlanders.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Elementos Transponibles de ADN / Altitud Límite: Humans País como asunto: Asia Idioma: En Año: 2024 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Elementos Transponibles de ADN / Altitud Límite: Humans País como asunto: Asia Idioma: En Año: 2024 Tipo del documento: Article