OMIA 001228-9913 : Spherocytosis in Bos taurus

In other species: dog , North American deer mouse

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 109270 , 182900

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Incompletely 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.

Breed: Japanese Black.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Japanese Black Spherocytosis SLC4A1 nonsense (stop-gain) UMD3.1 19 g.44695843 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

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.
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.

Edit History


  • Created by Frank Nicholas on 26 Nov 2005
  • Changed by Frank Nicholas on 30 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Sep 2012
  • Changed by Frank Nicholas on 05 Jun 2013
  • Changed by Frank Nicholas on 07 Jun 2013