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Blood, 15 November 2008, Vol. 112, No. 10, pp. 4308-4313. Prepublished online as a Blood First Edition Paper on September 9, 2008; DOI 10.1182/blood-2007-09-111500. This Article Full Text Full Text (PDF) Supplemental Tables and Figure All Versions of this Article: blood-2007-09-111500v1 112/10/4308    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Tian, M. Articles by Fleming, M. D. Search for Related Content PubMed PubMed Citation Articles by Tian, M. Articles by Fleming, M. D. Related Collections Red Cells Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  RED CELLS hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse Meng Tian1, Dean R. Campagna1, Lanette S. Woodward2, Monica J. Justice2, and Mark D. Fleming1 1 Department of Pathology, Children's Hospital Boston and Harvard Medical School, Boston, MA; and 2 Deparment of Genetics, Baylor College of Medicine, Houston, TX Mouse models have proven invaluable for understanding erythropoiesis. Here, we describe an autosomal recessive, inherited anemia in the mouse mutant hem6. Hematologic and transplantation analyses reveal a mild, congenital, hypochromic, microcytic anemia intrinsic to the hematopoietic system that is associated with a decreased red blood cell zinc protoporphyrin to heme ratio, indicative of porphyrin insufficiency. Intercross matings show that hem6 can suppress the porphyric phenotype of mice with erythropoietic protoporphyria (EPP). Furthermore, iron uptake studies in hem6 reticulocytes demonstrate defective incorporation of iron into heme that can be partially corrected by the addition of porphyrin precursors. Gene expression and enzymatic assays indicate that erythroid 5-aminolevulinic acid synthase (Alas2) is decreased in hem6 animals, suggesting a mechanism that could account for the anemia. Overall, these data lead to the hypothesis that hem6 encodes a protein that directly or indirectly regulates the expression of Alas2. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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