S1 nuclease analysis of alpha-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells.
The loss of alpha-globin gene transcriptional activity rarely occurs as an acquired abnormality during the evolution of myeloproliferative disease or preleukemia. To test whether the mutation responsible for the loss of alpha-globin gene expression (hemoglobin H disease) in these patients is linked with the alpha-globin genes on chromosome 16, we transferred chromosome 16 from preleukemic patients with acquired hemoglobin H disease to mouse erythroleukemia cells and measured the transcriptional activity of the human alpha-globin genes. After transfer to mouse erythroleukemia cells, the expression of human alpha-globin genes from the peripheral blood or marrow cells of preleukemic patients with acquired hemoglobin H disease was similar to that of human alpha-globin genes transferred to mouse erythroleukemia cells from normal donors. These data showed that factor(s) in the mouse erythroleukemia cell can genetically complement the alpha-globin gene defect in these preleukemia patients with acquired hemoglobin H disease and suggest that altered expression of a gene in trans to the alpha-globin gene may be responsible for the acquisition of hemoglobin H disease in these patients.
D000818:Animals; D004720:Endonucleases; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells / Q000166:cytology; D004915:Leukemia, Erythroblastic, Acute / Q000235:genetics*; D051379:Mice; D011289:Preleukemia / Q000097:blood / Q000150:complications / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000302:isolation & purification; D015719:Single-Strand Specific DNA and RNA Endonucleases; D013789:Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*; D014158:Transcription, Genetic
D012333:RNA, Messenger; D005914:Globins; D004720:Endonucleases; D015719:Single-Strand Specific DNA and RNA Endonucleases