OMIA:002468-9823 : Muscle growth, ZBED6-related in Sus scrofa (pig) |
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 613512 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2021
Species-specific description: Wang et al. (2021) "generated lean Bama miniature pigs by generating ZBED6-knockout (ZBED6-/-) and investigated the mechanism underlying ZBED6 in growth of muscle and internal organs of placental mammals. ZBED6-/- pigs show markedly higher lean mass, lean mass rate, larger muscle fiber area and heavier internal organs (heart and liver) than wild-type (WT) pigs." This study involves genetically modified organisms (GMO).
Molecular basis: Wang et al. (2021): "A CRISPR/Cas9-mediated, nonhomologous end-joining-independent integration strategy was developed to knock out ZBED6 in Bama miniature pigs. ... Five healthy founders were used as the test subjects in further experiments. Each cloned piglet was homozygous for a one-base pair deletion at position 1320-T of ZBED6 ... . This 1-bp deletion is a frameshift mutation, introducing the transcript was out of frame after codon 134 and a premature stop occurs at codon 224. This produces a short truncated protein (223 amino acids out of 981 amino acids in the full length protein = 22.7%) that did not maintain either of the two BED-DNA binding domains ... ."
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breed:
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ZBED6 | zinc finger, BED-type containing 6 | Sus scrofa | 9 | NC_010451.3 (70678442..70683895) | ZBED6 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1376 | Bama Xiang Zhu, China (Pig) | ZBED6 knock-out | ZBED6 | deletion, small (<=20) | Genome-editing (CRISPR-Cas9) | c.1320del | c.1320del causes a frameshift after codon 134 and a premature stop occurs at codon 224 (Wang et al., 2021) | 2021 | 34710100 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002468-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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 | Wang, D., Pan, D., Xie, B., Wang, S., Xing, X., Liu, X., Ma, Y., Andersson, L., Wu, J., Jiang, L. : |
| Porcine ZBED6 regulates growth of skeletal muscle and internal organs via multiple targets. PLoS Genet 17:e1009862, 2021. Pubmed reference: 34710100. DOI: 10.1371/journal.pgen.1009862. | |
| Wang, D., Pu, Y., Li, Y., Pan, D., Wang, S., Tian, W., Ma, Y., Jiang, L. : | |
| Comprehensive analysis of lncRNAs involved in skeletal muscle development in ZBED6-knockout Bama pigs. BMC Genomics 22:593, 2021. Pubmed reference: 34348644. DOI: 10.1186/s12864-021-07881-y. | |
| 2010 | Andersson, L., Andersson, G., Hjälm, G., Jiang, L., Lindblad-Toh, K., Lindroth, A.M., Markljung, E., Nyström, A.M., Rubin, C.J., Sundström, E. : |
| ZBED6: The birth of a new transcription factor in the common ancestor of placental mammals. Transcription 1:144-148, 2010. Pubmed reference: 21326889. DOI: 10.4161/trns.1.3.13343. | |
| 2009 | Markljung, E., Jiang, L., Jaffe, J.D., Mikkelsen, T.S., Wallerman, O., Larhammar, M., Zhang, X., Wang, L., Saenz-Vash, V., Gnirke, A., Lindroth, A.M., Barrés, R., Yan, J., Strömberg, S., De, S., Pontén, F., Lander, E.S., Carr, S.A., Zierath, J.R., Kullander, K., Wadelius, C., Lindblad-Toh, K., Andersson, G., Hjälm, G., Andersson, L. : |
| ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth. PLoS Biol 7:e1000256, 2009. Pubmed reference: 20016685. DOI: 10.1371/journal.pbio.1000256. |
Edit History
- Created by Imke Tammen2 on 03 Nov 2021
- Changed by Imke Tammen2 on 10 Dec 2023