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OMIA 002192-9612 : Williams-Beuren syndrome in Canis lupus

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

Mendelian trait/disorder: unknown

Considered a defect: yes

Markers: vonHoldt 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 Frank Nicholas on 29 Apr 2019
  • Changed by Frank Nicholas on 29 Apr 2019