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Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation
Emanuela Gussoni, … , Louis M. Kunkel, Kenneth Weinberg
Emanuela Gussoni, … , Louis M. Kunkel, Kenneth Weinberg
Published September 15, 2002
Citation Information: J Clin Invest. 2002;110(6):807-814. https://doi.org/10.1172/JCI16098.
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Article Stem cells

Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation

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Abstract

Research Article

Authors

Emanuela Gussoni, Richard R. Bennett, Kristina R. Muskiewicz, Todd Meyerrose, Jan A. Nolta, Irene Gilgoff, James Stein, Yiu-mo Chan, Hart G. Lidov, Carsten G. Bönnemann, Arpad von Moers, Glenn E. Morris, Johan T. den Dunnen, Jeffrey S. Chamberlain, Louis M. Kunkel, Kenneth Weinberg

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Figure 2

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Detection of dystrophin exon 45 deletion in DMD-BMT1 and his mother by F...
Detection of dystrophin exon 45 deletion in DMD-BMT1 and his mother by FISH analysis. (a) Unaffected female. Chromosomes are counterstained in blue by 4′,6-diamidine-2-phenylindole dihydrochloride (DAPI) and both X chromosomes have red hybridizations signals using a dystrophin exon 45–specific probe. (b) DMD-BMT1’s mother’s chromosome spreads. Only one X chromosome hybridized with the dystrophin exon 45-specific probe, thus confirming her DMD carrier status for dystrophin exon 45 deletion. (c) DMD-BMT1 fibroblast nuclei hybridized with an X-centromeric probe (green) and a dystrophin exon 45 probe (red), which failed to hybridize. (d and e) Detection of donor-derived nuclei in MSC cultures of DMD-BMT1. (d) By immunofluorescence, more than 95% of cultured MSCs from DMD-BMT1 are positive for CD105 (green). (e) FISH analysis using a dystrophin exon 45 cosmid probe (red) shows presence of donor-derived MSCs. (f and g) Simultaneous hybridization of DMD-BMT1 MSC nuclei with an X-centromeric DNA probe (green) and dystrophin exon 45 probe (red) by FISH. Donor nuclei in DMD-BMT1 MSCs are diploid. (h and i) Nuclei from an unaffected female hybridized by FISH with the X-centromeric and dystrophin exon 45 FISH probes. Two green and red hybridization signals are expected in each nucleus. Nuclei are counterstained in blue by DAPI.
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