Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

Haematologica

Volumn 96, Issue 6, 2011, Pages 808-813

  Kannengiesser, Caroline ^a,m   Sanchez, Mayka ^b   Sweeney, Marion ^c   Hetet, Gilles ^a   Kerr, Briedgeen ^d   Moran, Erica ^b   Soler, Jose L Fuster ^e   Maloum, Karim ^f   Matthes, Thomas ^g   Oudot, Caroline ^h   Lascaux, Axelle ^i,j   Pondarré, Corinne ^j   Navarro, Julian Sevilla ^k   Vidyatilake, Sudharma ^l   Beaumont, Carole ^m   Grandchamp, Bernard ^a,m   May, Alison ^c,d  

^a BICHAT HOSPITAL   (France)

^b Institute of Predictive and Personalized Medicine of Cancer   (Spain)

^c CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^d UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^e HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g HUG   (Switzerland)

^h LIMOGES UNIVERSITY HOSPITAL   (France)

ⁱ BORDEAUX UNIVERSITY HOSPITAL   (France)

^j Hématologie Onco Pédiatrique   (France)

^k HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^l LADY RIDGEWAY HOSPITAL FOR CHILDREN   (Sri Lanka)

^m INSERM   (France)

more..

Author keywords

Congenital sideroblastic anemia; Missense mutations; SLC25A38

Indexed keywords

5 AMINOLEVULINATE SYNTHASE; 5 AMINOLEVULINATE SYNTHASE 2; CARRIER PROTEIN; DNA; FOLIC ACID; PROTEIN SLC25A38; PYRIDOXINE; UNCLASSIFIED DRUG;

5 AMINOLEVULINATE SYNTHASE 2 GENE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD TRANSFUSION; CLINICAL ARTICLE; CONGENITAL SIDEROBLASTIC ANEMIA; EUROPE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; IRON DEFICIENCY ANEMIA; MICROCYTIC ANEMIA; MISSENSE MUTATION; NEWBORN; PROTEIN SYNTHESIS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SIDEROBLASTIC ANEMIA; SLC25A38 GENE; SPLICING DEFECT; TRANSLATION REGULATION;

EID: 79958059562     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.039164     Document Type: Article

References (11)

1. Bottomley SS. Sideroblastic anemias. In: Greer JP, Foerster J, Rodgers GM, Paraskevas F, Glader B, Arber DA, Means RT Jr, eds. Wintrobe's Clinical Hematology, 12th ed. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 835-855.
2. Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009;41(6):651-653.
3. Bergmann AK, Campagna DR, McLoughlin EM, Agarwal S, Fleming M, Bottomley SS, Neufeld EJ. 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.
4. Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res. 1994;22(22): 4673-4680.
5. Finn RD, Mistry J, Tate J, Coggill P, Heger A, Pollington JE, et al. The Pfam protein families database. Nucleic Acids Res. 2010;38(Database issue):D211-D222.
6. Arnold K, Bordoli L, Kopp J, Schwede T. The SWISS-MODEL workspace: a webbased environment for protein structure homology modelling. Bioinformatics. 2006; 22(2):195-201.
7. Pebay-Peyroula E, Dahout-Gonzalez C, Kahn R, Trézéguet V, Lauquin GJ, Bran -Dolin G. Structure of mitochondrial ADP/ATP carrier in complex with carboxyatractyloside. Nature. 2003;426(6962):39-44.
8. DeLano WL. The PyMOL molecular graphics system. San Carlos CA: DeLano Scientific. 2002.
9. Tanno T, Bhanu NV, Oneal PA, et al. High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nat Med. 2007;13(9):1096-1101.
10. Tanno T, Porayette P, Sripichai O, Noh S-J, Byrnes C, Bhupatiraju A, et al. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood. 2009; 114(1):181-186.
11. Palmieri F, Pierri CL. Structure and function of mitochondrial carriers - role of the transmembrane helix P and G residues in the gating and transport mechanism. FEBS Lett. 2010;584(9):1931-1939.