OMIA:000807-9823 : Polycystic kidney disease in Sus scrofa |
In other species: domestic cat , horse , dog , , sheep , degu , rabbit , springbok , Western roe deer , crab-eating macaque , markhor , lion
Categories: Renal / urinary system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 173900 (trait) , 601313 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: PKD
Species-specific description: This disorder in pigs is the result of "mono-allelic knockout (KO) of PKD1 using zinc finger nuclease" (He et al., 2015). Affected animals are, therefore, genetically-modified organisms (GMO).
Watanabe et al. (2022) "used CRISPR-Cas9 and somatic cell cloning to produce pigs with the unique mutation c.152_153insG (PKD1insG/+). Pathological analysis of founder cloned animals and progeny revealed that PKD1insG/+ pigs developed many pathological conditions similar to those of patients with heterozygous mutations in PKD1."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PKD1 | polycystic kidney disease 1 (autosomal dominant) | Sus scrofa | 3 | NC_010445.4 (39849579..39899455) | PKD1 | Homologene, Ensembl , NCBI gene |
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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1404 | Polycystic kidney disease | PKD1 | PKD1^insG/+ | insertion, small (<=20) | Genome-editing (CRISPR-Cas9) | 3 | c.152_153insG | 2022 | 34980882 | ||||||||
| 1406 | Polycystic kidney disease | PKD1 | PKD1^Tins/+ | insertion, small (<=20) | Genome-editing (ZFN) | 3 | c.642_643insT | 2015 | 25798056 | ||||||||
| 1405 | Polycystic kidney disease | PKD1 | PKD1^TGCTins/+ | insertion, small (<=20) | Genome-editing (ZFN) | 3 | c.642_643insTGCT | 2015 | 25798056 |
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.
| 2022 | Wang, R., Li, W., Dai, H., Zhu, M., Li, L., Si, G., Bai, Y., Wu, H., Hu, X., Xing, Y. : |
| PKD1 deficiency induces bronchiectasis in a porcine ADPKD model. Respir Res 23:292, 2022. Pubmed reference: 36309681 . DOI: 10.1186/s12931-022-02214-3. | |
| Watanabe, M., Umeyama, K., Nakano, K., Matsunari, H., Fukuda, T., Matsumoto, K., Tajiri, S., Yamanaka, S., Hasegawa, K., Okamoto, K., Uchikura, A., Takayanagi, S., Nagaya, M., Yokoo, T., Nakauchi, H., Nagashima, H. : | |
| Generation of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation. Lab Invest 102:560-569, 2022. Pubmed reference: 34980882 . DOI: 10.1038/s41374-021-00717-z. | |
| 2021 | Tanihara, F., Hirata, M., Otoi, T. : |
| Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678 . DOI: 10.1262/jrd.2021-025. | |
| Wang, R., Li, W., Zhang, S., Song, Y., Dai, H., Tan, T., Hu, X,, Xing, Y. : | |
| The effects of intrinsic apoptosis on cystogenesis in PKD1-deficient ADPKD pig model. Gene :145792, 2021. Pubmed reference: 34175399 . DOI: doi: 10.1016/j.gene.2021.145792. | |
| 2020 | Koslowski, S., Latapy, C., Auvray, P., Blondel, M., Meijer, L. : |
| An overview of in vivo and in vitro models for autosomal dominant polycystic kidney disease: A journey from 3D-cysts to mini-pigs. Int J Mol Sci 21:4537, 2020. Pubmed reference: 32630605 . DOI: 10.3390/ijms21124537. | |
| 2015 | He, J., Li, Q., Fang, S., Guo, Y., Liu, T., Ye, J., Yu, Z., Zhang, R., Zhao, Y., Hu, X., Bai, X., Chen, X., Li, N. : |
| PKD1 mono-allelic knockout is sufficient to trigger renal cystogenesis in a mini-pig model. Int J Biol Sci 11:361-9, 2015. Pubmed reference: 25798056 . DOI: 10.7150/ijbs.10858. |
Edit History
- Created by Frank Nicholas on 16 Jul 2020
- Changed by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 09 Jan 2022
- Changed by Imke Tammen2 on 15 Nov 2022