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The C Terminus of Ku80 Activates the DNA-Dependent Protein Kinase Catalytic Subunit
TLDR
A 3′ deletion analysis of Ku80, the larger subunit of Ku, is carried out, and it is shown that the C-terminal 178 amino acid residues are dispensable for DNA end-binding activity but are required for efficient interaction of Ku with DNA-PKcs.
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Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype.
TLDR
People with the In(Lu) phenotype have no reported pathology, indicating that one functional EKLF allele is sufficient to sustain human erythropoiesis and the first demonstration of a blood group phenotype resulting from mutations in a transcription factor is demonstrated.
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The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype.
TLDR
Existing PCR-based methods for predicting D phenotype from DNA are not suitable for testing Africans or any population containing a substantial proportion of people with African ethnicity, so a new test is developed that detects the 37 bp insert in exon 4 of RHDpsi.
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Molecular and biochemical characterization of xrs mutants defective in Ku80
TLDR
The results with these revertants strongly support the model proposed earlier, that CHO-K1 cells carry a copy of the Ku80 gene (XRCC5) silenced by hypermethylation, and previously proposed ATP-binding and phosphorylation sites are not required for Ku80 activity.
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Clustered DNA damage leads to complex genetic changes in irradiated human cells.
TLDR
The breakpoints of several very large deletions induced by densely ionizing radiation in diploid human cells are determined for the first time and it is suggested that novel fragments found in complex rearrangements derive from other sites of radiation damage in the same cell.
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Molecular and biochemical characterisation of DNA-dependent protein kinase-defective rodent mutant irs-20.
TLDR
It is shown that the DNA- PKcs protein from irs-20 cells can bind to DNA but is unable to function as a protein kinase, and a mutation in DNA-PKcs that causes substitution of a lysine for a glutamic acid in the fourth residue from the C-terminus represents a strong candidate for the inactivating mutation.
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Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
TLDR
This project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system and is likely to serve as a model for other systems and for the analysis of other common and/or complex human genetic diseases.
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Fanconi anemia C gene product plays a role in the fidelity of blunt DNA end-joining.
TLDR
It is concluded that FAC, and perhaps all FA gene products, are likely to play a role in the fidelity of end-joining of specific DSB, which likely accounts for the FA-C phenotype of chromosome instability.
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Induction of adult levels of β-globin in human erythroid cells that intrinsically express embryonic or fetal globin by transduction with KLF1 and BCL11A-XL
TLDR
The data show that KLF1 and BCL11A-XL together are required, but sufficient to induce adult levels of β-globin in induced pluripotent stem cell and cord blood-derived erythroid cells that intrinsically express embryonic or fetal globin.
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Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes.
TLDR
E325K protein may actively interfere with EKLF-dependent processes by destabilizing transcription complexes, providing a rational explanation for the severity of the disease phenotype and highlighting the critical role of residues within the second EKlF zinc finger domain.
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