OMIA 002115-9612 : Stereotypical hypersociability in Canis lupus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 194050 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Williams-Beuren syndrome

Markers: von Holdt et al. (2019) "assessed transcriptome sequence data and found evidence that MEIs [mobile element insertions] impact the expression levels of six genes (WBSCR17, LIMK1, GTF2I, WBSCR27, BAZ1B, and BCL7B), all of which have known roles in human Williams-Beuren syndrome due to changes in copy number, typically hemizygosity."

Reference


2018 vonHoldt, B.M., Ji, S.S., Aardema, M.L., Stahler, D.R., Udell, M.A.R., Sinsheimer, J.S. :
Activity of genes with functions in human Williams-Beuren syndrome is impacted by mobile element insertions in the gray wolf genome. Genome Biol Evol 10:1546-1553, 2018. Pubmed reference: 29860323. DOI: 10.1093/gbe/evy112.

Edit History


  • Created by Imke Tammen2 on 28 Oct 2022
  • Changed by Imke Tammen2 on 28 Oct 2022