OMIM Result

*601568 Links

ADDUCIN 3; ADD3

Alternative titles; symbols
ADDUCIN, GAMMA
ADDUCIN-LIKE; ADDL
ADD3/NUP98 FUSION GENE, INCLUDED

TEXT

From a human fetal-brain cDNA library, Katagiri et al. (1996) isolated a novel human cDNA which they termed adducin-like 70. The predicted amino acid sequence shows a high degree of homology to adducins (alpha- 102680; beta- 102681). In human erythrocytes, adducin is a 200-kD heterodimeric skeletal component of the cell membrane, where it promotes the binding of spectrin to actin. This binding is regulated by calcium/calmodulin (114180). Adducin also is phosphorylated by protein kinase-C. Adducin and its multiple isoforms represent a family of proteins present in a variety of tissues and cultured cell lines, including those from brain, kidney, and liver. The gene, symbolized here ADDL, contains an open reading frame of 2,022 nucleotides encoding 674 amino acids. It shows 54%, 53%, and 59% identity in predicted amino acid sequence with alpha and beta components of human adducin and rat adducin 63, respectively. Katagiri et al. (1996) stated that human adducin-like 70 is likely to play an important role in the skeletal organization of the cell membrane. Northern blot analysis indicated ubiquitous expression of this gene in adult human tissues.

In a comprehensive assay of gene expression, Gilligan et al. (1999) showed the ubiquitous expression of alpha- and gamma-adducin, in contrast to the restricted expression of beta-adducin. Beta-adducin was expressed at high levels in brain and hematopoietic tissues (bone marrow in humans, spleen in mice).

Katagiri et al. (1996) localized the gene to 10q24.2-q24.3 by fluorescence in situ hybridization. Lahortiga et al. (2003) described a translocation t(10;11)(q25;p15) which resulted in fusion of the ADD3 gene to the NUP98 gene (601021) on chromosome 11p15 and development of T-cell acute lymphoblastic leukemia.

REFERENCES

1. Gilligan, D. M.; Lozovatsky, L.; Gwynn, B.; Brugnara, C.; Mohandas, N.; Peters, L. L. :: Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice. Proc. Nat. Acad. Sci. 96: 10717-10722, 1999.
PubMed ID : 10485892
2. Katagiri, T.; Ozaki, K.; Fujiwara, T.; Shimizu, F.; Kawai, A.; Okuno, S.; Suzuki, M.; Nakamura, Y.; Takahashi, E.; Hirai, Y. :: Cloning, expression and chromosome mapping of adducin-like 70 (ADDL), a human cDNA highly homologous to human erythrocyte adducin. Cytogenet. Cell Genet. 74: 90-95, 1996.
PubMed ID : 8893809
3. Lahortiga, I.; Vizmanos, J. L.; Agirre, X.; Vazquez, I.; Cigudosa, J. C.; Larrayoz, M. J.; Sala, F.; Gorosquieta, A.; Perez-Equiza, K.; Calasanz, M. J.; Odero, M. D. :: NUP98 is fused to Adducin 3 in a patient with T-cell acute lymphoblastic leukemia and myeloid markers, with a new translocation t(10;11)(q25;p15). Cancer Res. 63: 3079-3083, 2003.
PubMed ID : 12810632

CONTRIBUTORS

Victor A. McKusick - updated : 9/4/2003
Victor A. McKusick - updated : 11/8/1999

CREATION DATE

Victor A. McKusick : 12/13/1996

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