OMIA:001213-9823 : Premature senesence in Sus scrofa (pig)
In other species: rabbit
Categories: Mortality / aging (incl. embryonic lethal)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2019
Cross-species summary: Progeria, Progeria Syndrome, Hutchinson-Gilford progeria
Species-specific description: Dorado et al. (2019): "To overcome the gap between [Hutchinson-Gilford progeria syndrome] HGPS mouse models and patients, we have generated by CRISPR-Cas9 gene editing the first large animal model for HGPS, a knockin heterozygous LMNA c.1824C > T Yucatan minipig. Like HGPS patients, HGPS minipigs endogenously co-express progerin and normal lamin A/C, and exhibit severe growth retardation, lipodystrophy, skin and bone alterations, cardiovascular disease, and die around puberty." This phene includes references to studies involving genetically modified organisms (GMO).
Yucatan Miniature, United States of America (Pig) (VBO_0013234).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LMNA||lamin A/C||Sus scrofa||4||NC_010446.5 (93927255..93899019)||LMNA||Homologene, Ensembl , NCBI gene|
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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|
|1401||Yucatan Miniature, United States of America (Pig)||Hutchinson-Gilford progeria syndrome||LMNA||splicing||Genome-editing (CRISPR-Cas9)||Sscrofa11.1||4||g.93900345G>A||c.1824C>T||2019||30911407|
Cite this entry
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||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.|
|2019||Dorado, B., Pløen, G.G., Barettino, A., Macías, A., Gonzalo, P., Andrés-Manzano, M.J., González-Gómez, C., Galán-Arriola, C., Alfonso, J.M., Lobo, M., López-Martín, G.J., Molina, A., Sánchez-Sánchez, R., Gadea, J., Sánchez-González, J., Liu, Y., Callesen, H., Filgueiras-Rama, D., Ibáñez, B., Sørensen, C.B., Andrés, V. :|
|Generation and characterization of a novel knockin minipig model of Hutchinson-Gilford progeria syndrome. Cell Discov 5:16, 2019. Pubmed reference: 30911407 . DOI: 10.1038/s41421-019-0084-z.|
- Created by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 26 Dec 2021