The mole genome reveals regulatory rearrangements associated with adaptive intersexuality.
Science
; 370(6513): 208-214, 2020 10 09.
Article
em En
| MEDLINE
| ID: mdl-33033216
ABSTRACT
Linking genomic variation to phenotypical traits remains a major challenge in evolutionary genetics. In this study, we use phylogenomic strategies to investigate a distinctive trait among mammals the development of masculinizing ovotestes in female moles. By combining a chromosome-scale genome assembly of the Iberian mole, Talpa occidentalis, with transcriptomic, epigenetic, and chromatin interaction datasets, we identify rearrangements altering the regulatory landscape of genes with distinct gonadal expression patterns. These include a tandem triplication involving CYP17A1, a gene controlling androgen synthesis, and an intrachromosomal inversion involving the pro-testicular growth factor gene FGF9, which is heterochronically expressed in mole ovotestes. Transgenic mice with a knock-in mole CYP17A1 enhancer or overexpressing FGF9 showed phenotypes recapitulating mole sexual features. Our results highlight how integrative genomic approaches can reveal the phenotypic impact of noncoding sequence changes.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diferenciação Sexual
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Adaptação Fisiológica
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Esteroide 17-alfa-Hidroxilase
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Fator 9 de Crescimento de Fibroblastos
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Elementos Reguladores de Transcrição
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Toupeiras
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Animals
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article