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Title: Induction of kidney-related gene programs through co-option of SALL1 in mole ovotestes

Journal Article · · Development (Cambridge)
DOI: https://doi.org/10.1242/dev.201562 · OSTI ID:2470659
ORCiD logo [1];  [2];  [3];  [4];  [5];  [6];  [4];  [7];  [4]; ORCiD logo [1]
  1. Max Planck Institute for Molecular Genetics, Berlin (Germany); Universitätsmedizin Berlin (Germany)
  2. University of Bern (Switzerland); Bern University Hospital (Switzerland); Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)
  3. Max-Delbrück-Centrum für Molekulare Medizin (MDC), Berlin (Germany)
  4. Max Planck Institute for Molecular Genetics, Berlin (Germany)
  5. University of Geneva (Switzerland)
  6. Max Planck Institute for Animal Behavior, Radolfzell (Germany); University of Konstanz (Germany)
  7. Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States); USDOE Joint Genome Institute (JGI), Berkeley, CA (United States); Univ. of California, Merced, CA (United States)

Changes in gene expression represent an important source of phenotypic innovation. Yet how such changes emerge and impact the evolution of traits remains elusive. Here, we explore the molecular mechanisms associated with the development of masculinizing ovotestes in female moles. By performing integrative analyses of epigenetic and transcriptional data in mole and mouse, we identified the co-option of SALL1 expression in mole ovotestes formation. Chromosome conformation capture analyses highlight a striking conservation of the 3D organization at the SALL1 locus, but an evolutionary divergence of enhancer activity. Interspecies reporter assays support the capability of mole-specific enhancers to activate transcription in urogenital tissues. Through overexpression experiments in transgenic mice, we further demonstrate the capability of SALL1 to induce kidney-related gene programs, which are a signature of mole ovotestes. Our results highlight the co-option of gene expression, through changes in enhancer activity, as a plausible mechanism for the evolution of traits.

Research Organization:
Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)
Sponsoring Organization:
German Research Foundation (DFG); National Institutes of Health (NIH); Swiss National Science Foundation; USDOE
Grant/Contract Number:
AC02-05CH11231
OSTI ID:
2470659
Journal Information:
Development (Cambridge), Journal Name: Development (Cambridge) Journal Issue: 17 Vol. 150; ISSN 0950-1991
Publisher:
Company of BiologistsCopyright Statement
Country of Publication:
United States
Language:
English

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