While their paper still faces peer review, a team of researchers have concluded that their study suggests a gene variant may contribute to the risk of severe depression. in horse.
According to a pre-print June 18 in bioRxiv, which claims to be the preprint server for biology, researchers have found that functional single-nucleotide polymorphisms, or genomic variation, are upstream of collagen genes. type III may contribute to the risk of catastrophic fractures in thoroughbred horses.
The summary makes the following conclusion, “This method provides a powerful means of identifying novel DNA variants and understanding their mechanism of action to enable the development of novel ways to identify and treat horses are at high risk of serious fractures.”
The full print gives a more detailed conclusion.
“In summary, we have established a cell-based system to enable us to investigate the genetic basis of fractures in Thoroughbred horses. To support previous work identifying regions involved in fractures. bone on ECA18 (Blott et al. 2014; Tozaki et al. 2020), we demonstrated that one of the genes in this region, COL3A1, is differentially expressed in equine cells at high fracture risk. and low and this may in part be due to the presence of the associated SNP in the COL3A1 promoter sequence,” the study suggests. “SNPs can affect SOX11 binding and we demonstrate that SOX11 regulates COL3A1 expression. These findings support future work using this system to identify other differentially expressed genes. genome and other SNPs associated with fracture risk.
“This approach is potentially very valuable in removing the complexity of the genetic basis for fracture risk.”
The risk of such fractures has been shown to be influenced by both environmental and genetic factors, the researchers said, but to date, no specific genetic mechanism for fractures has been identified. determined. The aim of the study was to use the genome-wide polygenic risk score to establish a cell system in vitro to study bone gene regulation in horses at high and low genetic fracture risk. Candidate gene expression analysis revealed differential expression of COL3A1 and STAT1 genes in osteoblasts derived from high- and low-risk horses.
“Whole genome sequencing of fracture and control horses showing single nucleotide polymorphisms (SNPs) upstream of COL3A1 was confirmed in a larger, related cohort,” the study summary said. significantly to fracture”.
The study’s authors are Esther Palomino Lago and Amy C. Ross of the Royal Veterinary College, Arabella Baird and Rhona McPhail of the Animal Health Trust, Sarah Blott of the University of Nottingham, Sian Durward-Arkhurst of the University of Minnesota, and Corresponding author Debbie Guest.
Before formal publication in an academic journal, scientific and medical articles are often certified by “reviews”. In the process, the journal’s editors take advice from a variety of experts—known as “arbiters”—who have evaluated the paper and are able to identify weaknesses in the assumptions. , its methods and conclusions. Typically, a journal will publish an article only after the editors are satisfied that the authors have addressed the arbitrator’s concerns and that the data presented support the conclusions drawn. in the article.
Because this process can be lengthy, authors use the bioRxiv service to make their manuscript a “reprint” before it is certified by peer-review, allowing other scientists to view it. , discuss and comment on findings instantly.
