OMIA:000017-8128 : Adrenal insufficiency, congenital, CYP11A1-related in Oreochromis niloticus (Nile tilapia) |
In other species: rabbit
Categories: Reproductive system phene , Endocrine / exocrine gland phene (incl mammary gland)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 118485 (gene) , 613743 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary: This is a type of XY difference of sexual development (XY DSD). This disorder results from a buildup of cholesterol in the adrenal cortex, which in turn results from a deficiency of the enzyme responsible for converting cholesterol into pregnenolone. The enzyme is cytochrome P450scc or P45011A. Renamed from 'Adrenal hyperplasia, congenital' [29/09/2023]
Species-specific description:
Xiao et al. (2024) "established a steroid hormones-free genetic model in tilapia by mutation of cyp11a1 using CRISPR/Cas9 ... . ... Gonadal phenotype and transcriptome analyses showed that the XX mutants displayed sex reversal from female to male but with defective spermatogenesis."
This study involves gene edited or genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| cyp11a1 | Oreochromis niloticus | - | no genomic information (-..-) | cyp11a1 | Ensembl |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1751 | Steroid hormone-deprived sex reversal, CYP11A1-related | cyp11a1 | deletion, gross (>20) | Genome-editing (CRISPR-Cas9) | 22 bp deletion in exon 4 | 2024 | 39284885 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000017-8128: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Xiao, H., Wang, L., Yan, S., Ma, H., Xu, Z., Wang, F., Wang, J., Tao, W., Wang, D. : |
| Steroid hormone-deprived sex reversal in cyp11a1 mutant XX tilapia experiences an ovary-like stage at molecular level. Commun Biol 7:1154, 2024. Pubmed reference: 39284885. DOI: 10.1038/s42003-024-06853-8. |
Edit History
- Created by Imke Tammen2 on 18 Oct 2024