Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002871 (
anemia
)
52,094
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
ABCD4
, a member of the ATP-binding cassette transporter superfamily, is associated with the transport of vitamin B
12
which is crucial for the development of red blood cells (RBCs) and may also be involved in its metabolism. However, the molecular function of
ABCD4
during RBC development in zebrafish is mostly unknown. Using a morpholino-based knockdown approach, we found that abcd4-knockdown resulted in abnormal RBCs of irregular shapes and various sizes. o-Dianisidine staining, as an indicator of hemoglobin in RBCs, further confirmed that abcd4 morphants possessed fewer hemoglobinized cells and impaired blood circulation. Multiple protein sequence alignment revealed that the amino acid sequence for residues 13-292, which is the domain of vitamin B
12
transport, of the zebrafish Abcd4 was highly conserved compared to that of other species. Accordingly, the abcd4 morphants can be rescued with human
ABCD4
, demonstrating a conserved role of
ABCD4
in vertebrates. Notably, the vitamin B
12
-deficient phenotype in abcd4 morphants, which causes
anemia
, was recapitulated in the newly-established abcd4 mutant, indicating the possibility that the abcd4 mutant could be used as a disease model of vitamin B
12
-deficiency
anemia
. Our study provides an insight that the analysis of the newly-established abcd4 mutant may contribute to understanding its roles in
ABCD4
-related vitamin B
12
-deficiency
anemia
and the associated pathogeneses in humans.
...
PMID:Loss of abcd4 in zebrafish leads to vitamin B
12
-deficiency anemia. 3111 16
