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. Author manuscript; available in PMC: 2015 Feb 18.
Published in final edited form as: Am J Hematol. 2014 Aug 4;89(10):985–991. doi: 10.1002/ajh.23807

Figure 2.

Figure 2

Northern blot analysis of pre-rRNA processing was performed on primary peripheral blood mononuclear cells from the proband, her parents, and a normal unaffected individual after culture for 96 hours in ConA (A and B) and on K562 erythroleukemia cells (C and D) after transduction with lentivirus expressing shRNA to RPL31 or luciferase (E). Membranes were interrogated with probes against ITS2 (A and C) and ITS1 (B and D), shown as * above schematic views of the pre-rRNA species to the right. In comparison to parents and a normal control, proband lymphocytes demonstrated a marked increase in 32S pre-rRNA abundance (A), indicative of a large subunit processing defect, as well as increased 45S and 18SE pre-rRNA, and diminished 30S pre-rRNA, suggesting involvement of small subunit processing (B). A similar pattern of abnormalities results from RPL31 knockdown in K562 cells (C and D), indicating that RPL31 haploinsufficiency alone is sufficient to produce these pre-rRNA processing abnormalities. Error bars indicate the SEM.