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Genetics. 2017 Jul;206(3):1495-1503. doi: 10.1534/genetics.117.202549. Epub 2017 May 17.

Functional Equivalence of the SOX2 and SOX3 Transcription Factors in the Developing Mouse Brain and Testes.

Author information

1
School of Biological Sciences, University of Adelaide, South Australia, Australia 5005.
2
The Robinson Research Institute, University of Adelaide, South Australia, Australia 5005.
3
Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia 50271.
4
School of Biological Sciences, University of Adelaide, South Australia, Australia 5005 paul.thomas@adelaide.edu.au.
5
South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia 5000.

Abstract

Gene duplication provides spare genetic material that evolution can craft into new functions. Sox2 and Sox3 are evolutionarily related genes with overlapping and unique sites of expression during embryogenesis. It is currently unclear whether SOX2 and SOX3 have identical or different functions. Here, we use CRISPR/Cas9-assisted mutagenesis to perform a gene-swap, replacing the Sox3 ORF with the Sox2 ORF to investigate their functional equivalence in the brain and testes. We show that increased expression of SOX2 can functionally replace SOX3 in the development of the infundibular recess/ventral diencephalon, and largely rescues pituitary gland defects that occur in Sox3 null mice. We also show that ectopic expression of SOX2 in the testes functionally rescues the spermatogenic defect of Sox3 null mice, and restores gene expression to near normal levels. Together, these in vivo data provide strong evidence that SOX2 and SOX3 proteins are functionally equivalent.

KEYWORDS:

CRISPR/CAS9 mutagenesis; SOXB1 genes; gene swap

PMID:
28515211
PMCID:
PMC5500146
DOI:
10.1534/genetics.117.202549
[Indexed for MEDLINE]
Free PMC Article

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