OMIA 002464-9823 : Cryopyrin-associated periodic syndrome, NLRP3-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606416 (gene) , 120100 (trait) , 607115 (trait) , 191900 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO).

Molecular basis: Li et al. (2020): "an NLRP3 gain-of-function pig model carrying a homozygous R259W mutation was generated by combining CRISPR/Cpf1-mediated somatic cell genome editing with nuclear transfer."

Clinical features: Li et al. (2020): "The newborn NLRP3 R259W homozygous piglets showed early mortality, poor growth, and spontaneous systemic inflammation symptoms, including skin lesion, joint inflammation, severe contracture, and inflammation-mediated multiorgan failure. Severe myocardial fibrosis was also observed. ... Notably, approximately half of the homozygous piglets grew up to adulthood and even gave birth to offspring. Although the F1 heterozygous piglets showed improved survival rate and normal weight gain, 39.1% (nine out of 23) of the piglets died early and exhibited spontaneous systemic inflammation symptoms.

Pathology: Li et al. (2020): The tissues of inflamed skins and several organs showed significantly increased expressions of NLRP3, Caspase-1, and inflammation-associated cytokines and factors (i.e., IL-1β, TNF-α, IL-6, and IL-17).

Breed: Large White.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NLRP3 NLR family, pyrin domain containing 3 Sus scrofa 2 NC_010444.4 (56977412..56892241) NLRP3 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
1370 Large White Cryopyrin-associated periodic syndrome NLRP3 missense Genome editing (CRISPR/Cpf1) 2 p.(R259W) 2020 32958688

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.
2021 Li, W., Shi, L., Zhuang, Z., Wu, H., Lian, M., Chen, Y., Li, L., Ge, W., Jin, Q., Zhang, Q., Zhao, Y., Liu, Z., Ouyang, Z., Ye, Y., Li, Y., Wang, H., Liao, Y., Quan, L., Xiao, L., Lai, L., Meng, G., Wang, K. :
Correction: Engineered pigs carrying a gain-of-function NLRP3 homozygous mutation can survive to adulthood and accurately recapitulate human systemic spontaneous inflammatory responses. J Immunol 207:2385-2386, 2021. Pubmed reference: 34580110. DOI: 10.4049/jimmunol.2100753.
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.
2020 Li, W., Shi, L., Zhuang, Z., Wu, H., Lian, M., Chen, Y., Li, L., Ge, W., Jin, Q., Zhang, Q., Zhao, Y., Liu, Z., Ouyang, Z., Ye, Y., Li, Y., Wang, H., Liao, Y., Quan, L., Xiao, L., Lai, L., Meng, G., Wang, K. :
Engineered pigs carrying a gain-of-function NLRP3 homozygous mutation can survive to adulthood and accurately recapitulate human systemic spontaneous inflammatory responses. J Immunol 205:2532-2544, 2020. Pubmed reference: 32958688. DOI: 10.4049/jimmunol.1901468.
2018 Wu, H., Liu, Q., Shi, H., Xie, J., Zhang, Q., Ouyang, Z., Li, N., Yang, Y., Liu, Z., Zhao, Y., Lai, C., Ruan, D., Peng, J., Ge, W., Chen, F., Fan, N., Jin, Q., Liang, Y., Lan, T., Yang, X., Wang, X., Lei, Z., Doevendans, P.A., Sluijter, J.P.G., Wang, K., Li, X., Lai, L. :
Engineering CRISPR/Cpf1 with tRNA promotes genome editing capability in mammalian systems. Cell Mol Life Sci 75:3593-3607, 2018. Pubmed reference: 29637228. DOI: 10.1007/s00018-018-2810-3.

Edit History


  • Created by Imke Tammen2 on 26 Oct 2021
  • Changed by Imke Tammen2 on 26 Oct 2021
  • Changed by Imke Tammen2 on 26 Dec 2021