OMIA:001228-9913 : Spherocytosis in Bos taurus (taurine cattle)
Categories: Haematopoietic system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 1996
Species-specific name: BAND3 deficiency
Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Inaba et al. (1996) showed in a population of Japanese Black cattle, that this disorder is due to a nonsense mutation (CGA>TGA; Arg>Stop) in the gene for band 3 of red cell membrane, at the position corresponding to codon 646 of the human gene. The lack of this protein produces very unstable red-cell membranes, resulting in anaemia and retarded growth.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Japanese Black, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC4A1||solute carrier family 4 (anion exchanger), member 1 (Diego blood group)||Bos taurus||19||NC_037346.1 (44082437..44066247)||SLC4A1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|303||Japanese Black, Japan (Cattle)||Spherocytosis||SLC4A1||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||19||g.44069903G>A||c.1990C>T||p.(R664*)||1996||8621763||Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446|
Cite this entry
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.
|2007||Ito, D., Otsuka, Y., Koshino, I., Inaba, M. :|
|Lumenal localization in the endoplasmic reticulum of the C-terminal tail of an AE1 mutant responsible for hereditary spherocytosis in cattle. Jpn J Vet Res 54:191-7, 2007. Pubmed reference: 17405356.|
|2006||Ito, D., Koshino, I., Arashiki, N., Adachi, H., Tomihari, M., Tamahara, S., Kurogi, K., Amano, T., Ono, K., Inaba, M. :|
|Ubiquitylation-independent ER-associated degradation of an AE1 mutant associated with dominant hereditary spherocytosis in cattle. J Cell Sci 119:3602-12, 2006. Pubmed reference: 16912075. DOI: 10.1242/jcs.03101.|
|Kageyama, S., Hirayama, H., Moriyasu, S., Inaba, M., Ito, D., Ohta, H., Sawai, K., Minamihashi, A., Onoe, S. :|
|Genetic diagnosis of band 3 deficiency and sexing in bovine preimplantation embryos. J Vet Med Sci 68:319-23, 2006. Pubmed reference: 16679721.|
|1996||Inaba, M., Yawata, A., Koshino, I., Sato, K., Takeuchi, M., Takakuwa, Y., Manno, S., Yawata, Y., Kanzaki, A., Sakai, J., Ban, A., Ono, K., Maede, Y. :|
|Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation Journal of Clinical Investigation 97:1804-1817, 1996. Pubmed reference: 8621763. DOI: 10.1172/JCI118610.|
|Ogawa, H., Iga, Y. :|
|[Factor XIII deficiency in Japanese Black cattle.] Jui-chikusan-shinpo [J Vet Med] 49:411-412, 1996.|
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