V(D)J recombination and its defects

More documents

Recommendations

Info

Composition of DH-JH junctional region in B–/T– SCID patients DH JH D H3-3 (germline) insertion J H4-1 (germline) GTATTACGATTTTTGGAGTGGTTATTATACC ACTACTTTGACTACT GTATTACGATTTTTGGAGTGGTTATTATA GTATTACGATTTTTGGAGTGGTTATTATAC GTATTACGATTTTTGGAGTGGTTATTATACC GTATTACGATTTTTGGAGTGGTTAT GTATTACGATTTTTGGAGTGGTTATTATA GTATTACGATTTTTGGAGTGGTTATTAT GTATTACGATTTTTGGAGTGGTTATTATACC GTATTACGATTTTTGGAGTGGT GTATTACGATTTTTGGAGTGGTTATTATA GTATTACGATTTTTGGAGTGGTTATTATA GTCCA CGATCG GGT CGTAGCGTA CGTAG GGCTAAGG CGGAGC GGTTC CGATCGA CC TGACTACT CTTTGACTACT ACTACTTTGACTACT TTTGACTACT ACTTTGACTACT TGACTACT TACTTTGACTACT ACTACTTTGACTACT CTTTGACTACT ACTTTGACTACT 1. Assignment of D <strong>and</strong> J gene segments usage 2. Frequency of palindromic (P) nucleotides (caused by asymetric “hairpin” opening) 3. Number of deleted nucleotides 4. R<strong>and</strong>om insertion of nucleotides
Composition of junction regions DH 3’ deletions Healthy controls 3.1 P N P 0.2 JH 5’ deletion Total number of deletions 5.7 0.3 6.3 9.4 RAG-SCID 4.0 0.2 7.7 0.1 8.1 12.1
Page 1 and 2: ESID Prague meeting, 14-15 May 2007
Page 3 and 4: V(D)J recombination of the IGH gene
Page 5 and 6: V D IgH IgH V D J J V C C V J J IgL
Page 7 and 8: IGH gene rearrangements quantified
Page 9 and 10: Gene expression profiling of human
Page 11 and 12: EBF, LIG4 and RAG1 gene expression
Page 13 and 14: Cell 2006;124:260-262.
Page 15 and 16: Outline - V(D)J recombination and i
Page 17 and 18: T-B-NK+ SCID is caused by defect in
Page 19 and 20: Flowcytometric analysis of precurso
Page 21 and 22: CyIgµ/SmIgM/CD19 on bone marrow of
Page 23 and 24: T - B - NK + SCID patients without
Page 25 and 26: Clonogenic survival assay of fibrob
Page 27 and 28: Signal and coding joint formation i
Page 29: Composition of the precursor B-cell
Page 34 and 35: Case report of T-B-NK+ SCID - Girl
Page 36 and 37: Clonogenic survival assay of fibrob
Page 38 and 39: Composition of coding joints of pat
Page 40 and 41: RS-SCID caused by a deletion of thr
Page 42 and 43: Conclusions - V(D)J recombination d
Page 44 and 45: Acknowlegdements Dept. of Cell biol
Page 46 and 47: Differences in outcome of SCT of B-
Page 48 and 49: “Lack of Space hypothesis” No B
Page 50 and 51: Short tandem repeat (STR) analysis
Page 52 and 53: Second SCT - Artemis-deficient SCID
Page 54 and 55: Post-SCT2 precursor B-cells of dono
Page 56: Acknowlegdements Dept. of Immunolog

V(D)J recombination and its defects

Create successful ePaper yourself

Delete template?

Save as template?