ArticleOncotarget2017
Mutation of the Sp1 binding site in the 5' flanking region of SRY causes sex reversal in rabbits.
Article in Oncotarget, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 41 citations in OpenAlex.
- Exploring the impact of chia seeds and matcha green tea on gene expression related to the puberty pathway in growing male New Zealand white rabbits.Tropical animal health and production · 2025Article
- Genome-edited rabbits: Unleashing the potential of a promising experimental animal model across diverse diseases.Zoological research · 2024Review
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- First sex modification case in equine cloning.PloS one · 2023Article
- Characterising sex differences of autosomal DNA methylation in whole blood using the Illumina EPIC array.Clinical epigenetics · 2022Article
- Review
- Efficient TALEN-mediated gene knockin at the bovine Y chromosome and generation of a sex-reversal bovine.Cellular and molecular life sciences : CMLS · 2021Article
- Knockout of the HMG domain of the porcine SRY gene causes sex reversal in gene-edited pigs.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Genetically Modified Rabbits for Cardiovascular Research.Frontiers in genetics · 2021Review
- Genetic deletion of a short fragment of glucokinase in rabbit by CRISPR/Cas9 leading to hyperglycemia and other typical features seen in MODY-2.Cellular and molecular life sciences : CMLS · 2020Article
- Genome engineering technologies in rabbits.Journal of biomedical research · 2020Article
- CRISPR-Cas systems: Overview, innovations and applications in human disease research and gene therapy.Computational and structural biotechnology journal · 2020Review
- Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits.EBioMedicine · 2018Article
- Generation of genetically-engineered animals using engineered endonucleases.Archives of pharmacal research · 2018Review
- CRISPR/Cas9-mediated knock-in of the murine Y chromosomal Sry gene.The Journal of reproduction and development · 2018Article
- Principles and Applications of Rabbit Models for Atherosclerosis Research.Journal of atherosclerosis and thrombosis · 2018Review
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sex-determining region Y is a crucial gene that initiates male sex determination in mammals. Mutations of the Sp1-binding site in the 5' flanking region of SRY are associated with clinical male-to-female sex reversal syndrome, although such occurrences are rare and, until now, have not been reported in animal models. In this study, we mutated Sp1-binding sites in the 5' flanking region of the rabbit SRY gene using the CRISPR/Cas9 system. As expected, the SRY-Sp1 knockout rabbits had female external and internal genitalia and exhibited normal female copulatory behaviors, but they were infertile, and the adults displayed reduced follicles. Interestingly, we successfully obtained offspring from sex-reversed SRY-Sp1 knockout rabbits using embryo transfer. In summary, our study demonstrates that Sp1 is a major regulator in SRY gene transcription, and mutations of the Sp1 binding sites (Sp1-B and Sp1-C) in the 5' flanking region of SRY induce sex reversal in rabbits, which can be used as targets for clinical research of male-to-female sex reversal syndrome. Additionally, we provide the first evidence that sex reversal syndrome patients have the potential to become pregnant with the use of embryo transfer.
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