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: EC:3.6.4.4 (
kinesin
)
5,033
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Haplotype analysis and targeted next-generation resequencing allowed us to identify a mutation in the KIF23 gene and to show its association with an autosomal dominant form of congenital dyserythropoietic anemia type III (
CDA III
). The region at 15q23 where
CDA III
was mapped in a large Swedish family was targeted by array-based sequence capture in a female diagnosed with
CDA III
and her healthy sister. Prioritization of all detected sequence changes revealed 10 variants unique for the
CDA III
patient. Among those variants, a novel mutation c.2747C>G (p.P916R) was found in KIF23, which encodes mitotic kinesin-like protein 1 (MKLP1). This variant segregates with
CDA III
in the Swedish and American families but was not found in 356 control individuals. RNA expression of the 2 known splice isoforms of KIF23 as well as a novel one lacking the exons 17 and 18 was detected in a broad range of human tissues. RNA interference-based knock-down and rescue experiments demonstrated that the p.P916R mutation causes cytokinesis failure in HeLa cells, consistent with appearance of large multinucleated erythroblasts in
CDA III
patients. We conclude that
CDA III
is caused by a mutation in KIF23/MKLP1, a conserved mitotic
kinesin
crucial for cytokinesis.
...
PMID:Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. 2374 92
