OMIA 002286-9739 : Bisalbuminaemia in Tursiops truncatus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 103600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: no

Key variant known: no

Cross-species summary: Bisalbuminaemia or alloalbuminaemia is an inherited or acquired serum protein anomaly. These asymptomatic albumin variants are “characterized by the occurrence of two albumin fractions on serum protein separation by electrophoresis” Gili et al. (2016).

History: Gili et al. (2016) reported “the presence of hereditary bisalbuminemia in two groups of related bottlenose dolphins” by capillary zone electrophoresis and confirmed that agarose gel electrophoresis “could fail in the identification of this alteration.”

Molecular basis: Gili et al. (2017) screened for mutations in 15 bottlenose dolphins from two distinct families by Sanger sequencing the coding regions of the “bottlenose dolphin albumin gene (Gene ID: XP_004322082.1).” Gili et al. (2017) identified “eighteen albumin mutations (three synonymous and 15 non-synonymous)” and of these mutations, “two non-synonymous variations co-segregated with bisalbuminemic phenotype: p.Phe146Leu in exon 4 and p.Tyr163His in exon 5.” In exon 5, the amino acid change “was associated with the secondary and/or tertiary structure variation of the protein” and this has been reported in humans as the cause of bisalbuminaemia. Further pedigree analysis of these two dolphin families revealed “an autosomal codominant inheritance pattern” and these “mutations potentially responsible for bisalbuminemia were identified and confirmed the autosomal codominant trait in bottlenose dolphins.”

Prevalence: Bisalbuminaemia has been described by Gili et al. (2016) as “a relatively rare anomaly.”

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ALB albumin Tursiops truncatus 5 NC_047038.1 (89230537..89374529) ALB Homologene, Ensembl, NCBI gene

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.
2017 Gili, C., Bonsembiante, F., Beffagna, G., Mazzariol, S., Gelain, M.E. :
Mutations and polymorphism in bottlenose dolphin (Tursiops truncatus, Montagu 1821) albumin gene: First identification of mutations responsible for inherited bisalbuminemia. Res Vet Sci 114:12-17, 2017. Pubmed reference: 28273558. DOI: 10.1016/j.rvsc.2017.02.018.
2016 Gili, C., Bonsembiante, F., Bonanni, R., Giordano, A., Ledda, S., Beffagna, G., Paltrinieri, S., Sommer, M., Gelain, M.E. :
Detection of hereditary bisalbuminemia in bottlenose dolphins (Tursiops truncatus, Montagu 1821): comparison between capillary zone and agarose gel electrophoresis. BMC Vet Res 12:172, 2016. Pubmed reference: 27544582. DOI: 10.1186/s12917-016-0801-x.

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  • Created by Tianna Grant on 15 Sep 2020