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Type: Journal article
Title: Functional equivalence of the SOX2 and SOX3 transcription factors in the developing mouse brain and testes
Author: Adikusuma, F.
Pederick, D.
McAninch, D.
Hughes, J.
Thomas, P.
Citation: Genetics: a periodical record of investigations bearing on heredity and variation, 2017; 206(3):1495-1503
Publisher: Genetics Society of America
Issue Date: 2017
ISSN: 0016-6731
Statement of
Fatwa Adikusuma, Daniel Pederick, Dale McAninch, James Hughes and Paul Thomas
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: SOXB1 genes; CRISPR/CAS9 mutagenesis; gene swap
Rights: Copyright © 2017 by the Genetics Society of America
DOI: 10.1534/genetics.117.202549
Grant ID: ARC
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Genetics publications

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