OMIA 000108-9103 : Binucleated red cell in Meleagris gallopavo

Possibly relevant human trait(s) and/or gene(s) (MIM number): 105600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific name: Binucleated erythrocyte

Species-specific symbol: bn

Species-specific description: First reported by Buss (1965), this defect arises from nondisjunction in mitosis. Limited evidence (Searle and Bloom, 1979) suggests that the fault lies with anomalous function of the centrosome (a region of differentiated cytoplasm containing the centriole, which is an organelle involved in cell division - specifically in the formation of spindle fibres which play a central role in disjunction). Interestingly, only erythrocytes are affected - all other cells divide normally. Woods et al. (1995) identified a protein that occurs only in association with centrosomes in erythrocytes, that exists in two forms, p23 and p21, which are encoded at an autosomal locus. Despite initial hopes that the p23/p21 locus would be the locus for binucleated red cells, a segregation analysis by Wood et al. (1995) showed that the two loci are not linked.

Clinical features: Haemolytic anaemia due to abnormal erythrocytes.

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.
1995 Woods, C.M., Zhu, J.A., Coleman, T., Bloom, S.E., Lazarides, E. :
Novel centrosomal protein reveals the presence of multiple centrosomes in turkey (Meleagris gallopavo) bnbn binucleated erythrocytes Journal of Cell Science 108:699-710, 1995. Pubmed reference: 7769012.
1979 Searle, B.M., Bloom, S.E. :
Influence of the bn gene on mitosis of immature red blood cells in turkeys Journal of Heredity 70:155-160, 1979. Pubmed reference: 489944.
1969 Bloom, S.E., Buss, E.G., Strother, G.K. :
Cytological and cytophotometric analysis of binucleated red blood cell mutants (bn) in turkeys [Abstract] Genetics 61:S5-S6, 1969.
1965 Buss, E.G. :
Binucleated red blood cells in turkeys Genetics 52:432 only, 1965.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 05 Aug 2013