OMIA:002631-9615 : Delayed postoperative hemorrhage in Canis lupus familiaris (dog)

Categories: Haematopoietic system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 262850 (trait) , 613168 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant with incomplete penetrance

Considered a defect: yes

Key variant known: no

Cross-species summary: Bleeding disorder

Species-specific symbol: DEPOH

Mapping: Court et al. (2023): "Genome-wide association analysis [in 8 affected and 17 control Scottish Deerhounds] identified a single locus on chromosome 9 spanning 40 genes . One of these genes (SERPINF2 encoding alpha-2 antiplasmin) was directly linked to the pathophysiology of DEPOH."

Molecular basis: Court et al. (2023): "The entire cohort [of 72 Scottish Deerhounds] was genotyped for a missense SERPINF2 variant (c.605 C>T; p.A202V). Compared to dogs with the reference C/C genotype, the likelihood of DEPOH was significantly higher for dogs with the T/T genotype (odds ratio [OR] = 1235; 95% confidence interval [CI] = 23-6752; P = 0.0005) and with the C/T genotype (OR = 28; 95% CI = 1.4-542; P = 0.03). ... The SERPINF2 haplotype marker we used in this study does alter the alpha-2 antiplasmin protein sequence. However, preliminary computational analysis indicates that this amino acid substitution is not likely to have a major effect on biological function. Consequently, this marker might only be useful for predicting the risk for DEPOH in Scottish deerhounds, and not for other breeds (such a greyhounds), which could have a different haplotype structure."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Greyhound (Dog) (VBO_0200638), Scottish Deerhound (Dog) (VBO_0201195).
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
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 Canis lupus familiaris 9 NC_051813.1 (46703271..46710872) SERPINF2 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002631-9615: 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.

2023 Court, M.H., Kiser, J.N., Neibergs, H.L., Zhu, Z., Dillberger, J.E. :
Identification by whole genome sequencing of genes associated with delayed postoperative hemorrhage in Scottish deerhounds. J Vet Intern Med , 2023. Pubmed reference: 36780177. DOI: 10.1111/jvim.16643.
2008 Lara-García, A., Couto, C.G., Iazbik, M.C., Brooks, M.B. :
Postoperative bleeding in retired racing greyhounds. J Vet Intern Med 22:525-33, 2008. Pubmed reference: 18466249. DOI: 10.1111/j.1939-1676.2008.0088.x.
2007 Lord, L.K., Yaissle, J.E., Marin, L., Couto, C.G. :
Results of a web-based health survey of retired racing Greyhounds. J Vet Intern Med 21:1243-50, 2007. Pubmed reference: 18196733.

Edit History


  • Created by Imke Tammen2 on 18 Feb 2023
  • Changed by Imke Tammen2 on 18 Feb 2023
  • Changed by Imke Tammen2 on 23 Feb 2023