OMIA 002468-9823 : Muscle growth, ZBED6-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 613512 (gene)

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 ... ."

Breed: Bama miniature.

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

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
1376 Bama miniature 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

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