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OMIA:002790-7962 : Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency in Cyprinus carpio (common carp)

Categories: Reproductive system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609300 (gene) , 202110 (trait)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Cross-species summary: This is a type of XX difference of sexual development (XX DSD) due to variants in the CYP17A1 gene.

Species-specific description: Zhai et al. (2022) report production of all-female (AF) common carp: "Male and female heterozygous cyp17a1-deficient common carp were first obtained using ... (CRISPR/Cas9) technique. An all-male phenotype for homozygous cyp17a1-deficient carp, regardless of the individuals’ sex-determination genotypes (XY or XX), has been observed. A male-specific DNA marker ... was used to screen the neomale carp population with the XX genotype from the cyp17a1-deficient carp. These neomale carp develop a normal testis structure with normal spermatogenesis and sperm capacity. The neomale common carp were then mated with wild-type (WT) females (cyp17a1+/+ XX genotype) using artificial fertilization. All the AF offspring sample fish from the neomale-WT female mating were confirmed as having the cyp17a1+/− XX genotype, and normal development of gonads to ovaries was observed in 100.00% of this group ... . ... The average body weight of cyp17a1+/− XX females was higher ... than that of the control common carp." This study involves 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
cyp17A1 Cyprinus carpio - no genomic information (-..-) cyp17A1 Ensembl

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002790-7962: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Chen, G., Huang, J., Jia, J., Lou, Q., Shi, C., Yasheng, M., Zhao, Y., Yuan, Q., Tang, K., Liu, X., Wang, Z., Jiang, D., Qian, X., Yin, Z., Zhai, G. :
The food safety assessment of all-female common carp (Cyprinus carpio) (cyp17a1+/-;XX genotype) generated using genome editing technology. Food Chem Toxicol :114103, 2023. Pubmed reference: 37852353. DOI: 10.1016/j.fct.2023.114103.
2022 Zhai, G., Shu, T., Chen, K., Lou, Q., Jia, J., Huang, J., Shi, C., Jin, X., He, J., Jiang, D., Qian, X., Hu, W, Yin, Z. :
Successful production of an all-female common carp (Cyprinus carpio L.) population using cyp17a1-deficient neomale carp. Engineering 8:181-189, 2022. DOI: 10.1016/j.eng.2021.03.026.

Edit History


  • Created by Imke Tammen2 on 21 Oct 2023
  • Changed by Imke Tammen2 on 21 Oct 2023
  • Changed by Imke Tammen2 on 10 Dec 2023