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Blood, Vol. 105, Issue 11, 4179-4186, June 1, 2005
Omenn syndrome due to ARTEMIS mutations
Blood Ege et al.
105: 4179
Supplemental materials for: Ege et al, Vol 105, Issue 11, 4179-4186
Files in this Data Supplement:
- Figure S1. STR (Short tandem repeats)-analysis of the patient's as well as his family members' DNA. (PDF, 65 KB) -
As exemplified for the short tandem repeat D16 S539, the patient inherited the allele No. 9 from his father, allele No. 10 from his mother, whereas his sibling inherited the allele No. 12 from his mother. The constellation where allele No. 12 is lacking in the patient's DNA excludes transfusion of maternal T-lymphocytes into the patient.
- Figure S2. Expression of wild-type and mutated ARTEMIS proteins in human cells. (PDF, 107 KB) -
(A) HEK293T cells were transfected with pcDNA6 expression plasmids coding for myc-His fusion proteins of either wild-type (ART-WT) or mutant (ARM27, 32, 29, 30, 26) ARTEMIS. As controls, HEK293 and HEK293T cells were transfected with a vector without ARTEMIS expression cassette. The expression of the ARTEMIS-myc-His fusion proteins, as detected by anti-myc immunoblot analysis, is shown in the upper panel; SV40 large T protein expression is shown below. ARM 29, ARM 30 and ARM 26 are expression cassettes starting at internal Met 8, Met 121 and Met 348 within the ARTEMIS protein. (B) HEK293T cells were transfected with pcDNA6 expression plasmids coding for myc-His fusion proteins of wild-type (ART-WT) and mutant (ARM27, 29, 32) ARTEMIS proteins. Nuclear staining was done using 7-AAD. The subcellular localization of the myc-His fusion proteins was detected by an immunostaining using a mouse anti-human myc antibody. An empty vector transfection served as a control.
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