Projects per year
Abstract
Supergenes are involved in adaptation in multiple organisms, but they are little known in humans. Genomic inversions are the most common mechanism of supergene generation and maintenance. Here, we review the information about two large inversions that are the best examples of potential human supergenes. In addition, we do an integrative analysis of the newest data to understand better their functional effects and underlying genetic changes. We have found that the highly divergent haplotypes of the 17q21.31 inversion of approximately 1.5 Mb have multiple phenotypic associations, with consistent effects in brain-related traits, red and white blood cells, lung function, male and female characteristics and disease risk. By combining gene expression and nucleotide variation data, we also analysed the molecular differences between haplotypes, including gene duplications, amino acid substitutions and regulatory changes, and identify CRHR1, KANLS1 and MAPT as good candidates to be responsible for these phenotypes. The situation is more complex for the 8p23.1 inversion, where there is no clear genetic differentiation. However, the inversion is associated with several related phenotypes and gene expression differences that could be linked to haplotypes specific of one orientation. Our work, therefore, contributes to the characterization of both exceptional variants and illustrates the important role of inversions. This article is part of the theme issue 'Genomic architecture of supergenes: causes and evolutionary consequences'.
Original language | English |
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Article number | 20210209 |
Number of pages | 11 |
Journal | Philosophical Transactions of the Royal Society B: Biological Sciences |
Volume | 377 |
Issue number | 1856 |
Early online date | 13 Jun 2022 |
DOIs | |
Publication status | Published - 1 Aug 2022 |
Keywords
- gene expression
- humans
- inversions
- phenotypic traits
- supergenes
Fingerprint
Dive into the research topics of 'Genomic architecture and functional effects of potential human inversion supergenes'. Together they form a unique fingerprint.Projects
- 2 Finished
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ON THE ROLE OF HUMAN RECURRENT MUTATIONS IN GENOME FUNCTION, EVOLUTION AND DISEASES
Caceres Aguilar, M. (Principal Investigator), CAMPOY GARCIA, E. (Collaborator), Delprat Obeaga, M. A. (Collaborator), Gomez Graciani, R. (Collaborator), Lerga Jaso, I. (Collaborator), Mercade Carceller, A. M. (Collaborator), O'REILLY, P. (Collaborator), Puig Font, M. (Collaborator), Ruiz Panadero, A. (Investigator) & Yakymenko ., I. (Collaborator)
1/06/20 → 31/12/23
Project: Research Projects and Other Grants
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Análisis integrador del impacto funcional de las inversiones en genomas y caracteres fenotípicos
Caceres Aguilar, M. (Principal Investigator), Delprat Obeaga, M. A. (Collaborator), Ruiz Panadero, A. (Investigator), Laplana Lafaja, M. (Collaborator) & Campoy Garcia, M. E. (Collaborator)
Spanish Ministry of Economy and Competitiveness (MINECO)
30/12/16 → 31/12/20
Project: Research Projects and Other Grants
Datasets
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Table S3 from Genomic architecture and functional effects of potential human inversion supergenes
Campoy, E. (Creator), Puig, M. (Creator), Yakymenko, I. (Creator), Lerga-Jaso, J. (Creator) & Cáceres, M. (Creator), 9 May 2022
DOI: 10.6084/m9.figshare.19732913.v1, https://rs.figshare.com/articles/dataset/Table_S3_from_Genomic_architecture_and_functional_effects_of_potential_human_inversion_supergenes/19732913/1
Dataset
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Supplementary material from "Genomic architecture and functional effects of potential human inversion supergenes"
Campoy Garcia, M. E. (Creator), Puig, M. (Creator), Yakymenko, I. (Creator), Lerga-Jaso, J. (Creator) & Cáceres, M. (Creator), 9 May 2022
DOI: 10.6084/m9.figshare.c.5986112.v1, https://rs.figshare.com/collections/Supplementary_material_from_Genomic_architecture_and_functional_effects_of_potential_human_inversion_supergenes_/5986112/1
Dataset
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Table S4 from Genomic architecture and functional effects of potential human inversion supergenes
Campoy Garcia, M. E. (Creator), Puig, M. (Creator), Yakymenko, I. (Creator), Lerga-Jaso, J. (Creator) & Cáceres, M. (Creator), 9 May 2022
DOI: 10.6084/m9.figshare.19732922.v1, https://rs.figshare.com/articles/dataset/Table_S4_from_Genomic_architecture_and_functional_effects_of_potential_human_inversion_supergenes/19732922/1
Dataset