OMIA 002211-9823 : Cardiomyopathy, hypertrophic, SGCD-related in Sus scrofa

In other species: golden hamster

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606685 (trait) , 601411 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Matsunar et al. (2020) "knocked out the δ-sarcoglycan (δ-SG) gene (SGCD) in domestic pig by using a combination of efficient de novo gene editing and somatic cell nuclear transfer. Loss of δ-SG expression in the SGCD knockout pigs caused a concomitant reduction in the levels of α-, β-, and γ-SG in the cardiac and skeletal sarcolemma, resulting in systolic dysfunction, myocardial tissue degeneration, and sudden death. These animals exhibited symptoms resembling human genetic cardiomyopathy and are thus promising for use in preclinical studies of next-generation therapies." These animals are genetically-modified organisms (GMO).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) Sus scrofa 16 NC_010458.4 (67481709..66447982) SGCD Homologene, Ensembl, NCBI gene

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.
2020 Matsunari, H., Honda, M., Watanabe, M., Fukushima, S., Suzuki, K., Miyagawa, S., Nakano, K., Umeyama, K., Uchikura, A., Okamoto, K., Nagaya, M., Toyo-Oka, T., Sawa, Y., Nagashima, H. :
Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy. Lab Invest 100:887-99, 2020. Pubmed reference: 32060408. DOI: 10.1038/s41374-020-0406-7.
Matsunari, H., Honda, M., Watanabe, M., Fukushima, S., Suzuki, K., Miyagawa, S., Nakano, K., Umeyama, K., Uchikura, A., Okamoto, K., Nagaya, M., Toyo-Oka, T., Sawa, Y., Nagashima, H. :
Correction: Pigs with δ-sarcoglycan deficiency exhibit traits of genetic cardiomyopathy. Lab Invest 100:900, 2020. Pubmed reference: 32203148. DOI: 10.1038/s41374-020-0414-7.

Edit History


  • Created by Frank Nicholas on 18 Feb 2020
  • Changed by Imke Tammen2 on 18 Sep 2021
  • Changed by Imke Tammen2 on 26 Dec 2021