OMIA 001213-9823 : Premature senesence in Sus scrofa

In other species: rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 150330 (gene) , 176670 (trait)

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).

Breed: Yucatan miniature pig.

Associated gene:

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

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
1401 Yucatan miniature pig Hutchinson-Gilford progeria syndrome LMNA splicing Genome-editing (CRISPR-Cas9) Sscrofa11.1 4 g.93900345G>A c.1824C>T 2019 30911407

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 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.

Edit History


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