Erratum: X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation (Journal of Clinical Investigation (2015) 125:4 (1665–1669) DOI: 10.1172/JCI78619);X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

Journal of Clinical Investigation

Volumn 125, Issue 4, 2015, Pages 1665-1669

  Sankaran, Vijay G ^a,b   Ulirsch, Jacob C ^a,b   Tchaikovskii, Vassili ^c   Ludwig, Leif S ^a,b,d,e   Wakabayashi, Aoi ^a,b   Kadirvel, Senkottuvelan ^c   Lindsley, R Coleman ^a   Bejar, Rafael ^a,g   Shi, Jiahai ^f   Lovitch, Scott B ^a   Bishop, David F ^c   Steensma, David P ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d FREIE UNIVERSITÄT BERLIN   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; MALTOSE BINDING PROTEIN; MESSENGER RNA; PYRIDOXAL 5 PHOSPHATE; ALAS2 PROTEIN, HUMAN; PROTEIN BINDING;

ADULT; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CONTROLLED STUDY; DYSERYTHROPOIESIS; ENZYME ACTIVITY; ENZYME KINETICS; ERYTHROID CELL; ERYTHROPOIESIS; EXOME; FEMALE; GENE EXPRESSION; GENE MUTATION; HEMATOPOIESIS; HUMAN; HUMAN TISSUE; IRON OVERLOAD; LEUKOCYTE; LOSS OF FUNCTION MUTATION; MOLECULAR PATHOLOGY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETICULOCYTE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER; BLOOD; CELL CULTURE; CHEMICAL STRUCTURE; DOMINANT GENE; GENETICS; HEMORRHAGE; MACROCYTIC ANEMIA; MALE; METABOLISM; MISSENSE MUTATION; MOLECULAR GENETICS; POINT MUTATION; PREGNANCY; PREGNANCY COMPLICATION; PROTEIN CONFORMATION; PUERPERAL DISORDERS; X CHROMOSOMAL INHERITANCE;

5-AMINOLEVULINATE SYNTHETASE; ADULT; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; ANEMIA, MACROCYTIC; CELLS, CULTURED; ERYTHROPOIESIS; EXOME; FEMALE; GENES, DOMINANT; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HEMORRHAGE; HUMANS; IRON OVERLOAD; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POINT MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PROTEIN BINDING; PROTEIN CONFORMATION; PUERPERAL DISORDERS; PYRIDOXAL PHOSPHATE; RETICULOCYTES; RNA, MESSENGER; X CHROMOSOME INACTIVATION;

EID: 84926343896     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI132538     Document Type: Erratum

References (23)

1. Hoffbrand V, Provan D. ABC of clinical haematology. Macrocytic anaemias. BMJ. 1997;314(7078):430-433.
2. Davenport J. Macrocytic anemia. Am Fam Physician. 1996;53(1):155-162.
3. Younes M, Dagher GA, Dulanto JV, Njeim M, Kuriakose P. Unexplained macrocytosis. South Med J. 2013;106(2):121-125.
4. Sankaran VG, Orkin SH. Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis. Curr Opin Genet Dev. 2013;23(3):339-344.
5. Iolascon A, Heimpel H, Wahlin A, Tamary H. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood. 2013;122(13):2162-2166.
6. Sankaran VG, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122(7):2439-2443.
7. Sankaran VG, Gallagher PG. Applications of high-throughput DNA sequencing to benign hematology. Blood. 2013;122(22):3575-3582.
8. Cotter PD, Baumann M, Bishop DF. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci U S A. 1992;89(9):4028-4032.
9. Bottomley SS, May BK, Cox TC, Cotter PD, Bishop DF. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J Bioenerg Biomembr. 1995;27(2):161-168.
10. Cotter PD, et al. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood. 1999;93(5):1757-1769.
11. Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF. Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood. 2000;96(13):4363-4365.
12. Bergmann AK, et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010;54(2):273-278.
13. Fleming MD. Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. Hematology Am Soc Hematol Educ Program. 2011;2011:525-531.
14. Aivado M, et al. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells Mol Dis. 2006;37(1):40-45.
15. Ducamp S, et al. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. Hum Mutat. 2011;32(6):590-597.
16. Astner I, Schulze JO, van den Heuvel J, Jahn D, Schubert WD, Heinz DW. Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans. EMBO J. 2005;24(18):3166-3177.
17. Bishop DF, Tchaikovskii V, Hoffbrand AV, Fraser ME, Margolis S. X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2). J Biol Chem. 2012;287(34):28943-28955.
18. Cotter PD, Rucknagel DL, Bishop DF. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood. 1994;84(11):3915-3924.
19. Amos-Landgraf JM, et al. X chromosome-inactivation patterns of 1,005 phenotypically unaffected females. Am J Hum Genet. 2006;79(3):493-499.
20. Harigae H, et al. Aberrant iron accumulation and oxidized status of erythroid-specific aminolevulinate synthase (ALAS2)-deficient definitive erythroblasts. Blood. 2003;101(3):1188-1193.
21. Sankaran VG, et al. Cyclin D3 coordinates the cell cycle during differentiation to regulate erythrocyte size and number. Genes Dev. 2012;26(18):2075-2087.
22. Kautz L, Jung G, Valore EV, Rivella S, Nemeth E, Ganz T. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet. 2014;46(7):678-684.
23. Migeon BR. The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. JAMA. 2006;295(12):1428-1433.