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| Status |
Public on Oct 09, 2020 |
| Title |
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality (Hi-C) |
| Organism |
Talpa occidentalis |
| Experiment type |
Other
|
| Summary |
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 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.
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| Overall design |
We used HiC-seq to define the topologically associated domains (TADs) in the mole genome.
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| Contributor(s) |
Martinez Real F |
| Citation(s) |
33033216 |
| |
| Submission date |
Aug 26, 2019 |
| Last update date |
Jan 10, 2021 |
| Contact name |
Francisca Martinez Real |
| E-mail(s) |
martinez@molgen.mpg.de
|
| Organization name |
Max Planck Institute for Molecular Genetics
|
| Street address |
Ihnestrasse 73
|
| City |
Berlin |
| ZIP/Postal code |
D-14195 |
| Country |
Germany |
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| Platforms (2) |
| GPL25619 |
Illumina HiSeq 2500 (Talpa occidentalis) |
| GPL25620 |
Illumina HiSeq 4000 (Talpa occidentalis) |
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| Samples (3) |
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| This SubSeries is part of SuperSeries: |
| GSE120589 |
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality |
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| Relations |
| BioProject |
PRJNA562268 |
| SRA |
SRP219308 |
