The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

doi:10.1126/science.aaz2582

GSTDTAP > 气候变化

DOI	10.1126/science.aaz2582
	The mole genome reveals regulatory rearrangements associated with adaptive intersexuality
	Francisca M. Real; Stefan A. Haas; Paolo Franchini; Peiwen Xiong; Oleg Simakov; Heiner Kuhl; Robert Schöpflin; David Heller; M-Hossein Moeinzadeh; Verena Heinrich; Thomas Krannich; Annkatrin Bressin; Michaela F. Hartmann; Stefan A. Wudy; Dina K. N. Dechmann; Alicia Hurtado; Francisco J. Barrionuevo; Magdalena Schindler; Izabela Harabula; Marco Osterwalder; Michael Hiller; Lars Wittler; Axel Visel; Bernd Timmermann; Axel Meyer; Martin Vingron; Rafael Jiménez; Stefan Mundlos; Darío G. Lupiáñez
	2020-10-09
发表期刊	Science
出版年	2020
英文摘要	Female moles are intersexual and develop masculinizing ovotestes, a distinctive trait among mammals. Real et al. investigated the origin of this trait by sequencing the Iberian mole genome and applying comparative strategies that integrate transcriptomic, epigenetic, and chromatin interaction data. They identified mole-specific genomic rearrangements that alter the three-dimensional regulatory landscape of the androgen-converting gene CYP17A1 and the pro-testicular factor gene FGF9 , both of which show distinct expression patterns in mole gonads. The use of transgenic mice confirms the capability of these factors to increase circulating testosterone levels and to induce gonadal masculinization. This study highlights how integrative approaches can reveal the phenotypic impact of genomic variation. Science , this issue p. [208][1] 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. [1]: /lookup/doi/10.1126/science.aaz2582
领域	气候变化 ; 资源环境
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文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/298097
专题	气候变化资源环境科学
推荐引用方式 GB/T 7714	Francisca M. Real,Stefan A. Haas,Paolo Franchini,et al. The mole genome reveals regulatory rearrangements associated with adaptive intersexuality[J]. Science,2020.
APA	Francisca M. Real.,Stefan A. Haas.,Paolo Franchini.,Peiwen Xiong.,Oleg Simakov.,...&Darío G. Lupiáñez.(2020).The mole genome reveals regulatory rearrangements associated with adaptive intersexuality.Science.
MLA	Francisca M. Real,et al."The mole genome reveals regulatory rearrangements associated with adaptive intersexuality".Science (2020).