Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

Pediatric Blood and Cancer

Volumn 61, Issue 7, 2014, Pages 1319-1321

  Parrella, Sara ^a   Aspesi, Anna ^a   Quarello, Paola ^b   Garelli, Emanuela ^c   Pavesi, Elisa ^a   Carando, Adriana ^c   Nardi, Margherita ^d   Ellis, Steven R ^e   Ramenghi, Ugo ^c   Dianzani, Irma ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY HOSPITAL OF PISA   (Italy)

^e UNIVERSITY OF LOUISVILLE   (United States)

Author keywords

Anemia; Diamond Blackfan; Erythropoiesis; Gata 1; Ribosomal protein

Indexed keywords

RIBOSOME PROTEIN; TRANSCRIPTION FACTOR GATA 1;

AMINO ACID SEQUENCE; ARTICLE; BLACKFAN DIAMOND ANEMIA; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; EXON; GENE MUTATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION;

ANEMIA; DIAMOND-BLACKFAN; ERYTHROPOIESIS; GATA-1; RIBOSOMAL PROTEIN;

ANEMIA, DIAMOND-BLACKFAN; CODON, INITIATOR; FEMALE; GATA1 TRANSCRIPTION FACTOR; HUMANS; MALE; POINT MUTATION; PROTEIN ISOFORMS;

EID: 84899666581     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24944     Document Type: Article

References (12)

1. Ferreira R, Ohneda K, Yamamoto M, et al. GATA1 function, a paradigm for transcription factors in hematopoiesis. Mol Cell Biol 2005; 25:1215-1227.
2. Calligaris R, Bottardi S, Cogoi S, et al. Alternative translation initiation site usage results in two functionally distinct forms of the GATA-1 transcription factor. Proc Natl Acad Sci USA 1995; 92:11598-11602.
3. Ciovacco WA, Raskind WH, Kacena MA. Human phenotypes associated with GATA-1 mutations. Gene 2008; 427:1-6.
4. Kanezaki R, Toki T, Terui K, et al. Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: Mutation classes correlate with progression to myeloid leukemia. Blood 2010; 116:4631-4638.
5. Hollanda LM, Lima CS, Cunha AF, et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis. Nat Genet 2006; 38:807-812.
6. Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest 2012; 122:2439-2443.
7. Vlachos A, Ball S, Dahl N, et al. Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference. Br J Haematol 2008; 142:859-876.
8. Boria I, Garelli E, Gazda HT, et al. The ribosomal basis of Diamond-Blackfan Anemia: Mutation and database update. Hum Mutat 2010; 31:1269-1279.
9. Gazda HT, Preti M, Sheen MR, et al. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in Diamond-Blackfan anemia. Hum Mutat 2012; 33:1037-1044.
10. Landowski M, O'Donohue MF, Buros C, et al. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet 2013; 132:1265-1274.
11. Campagnoli MF, Ramenghi U, Armiraglio M, et al. RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat 2008; 29:911-920.
12. Vlachos A, Farrar JE, Atsidaftos E, et al. Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome. Blood 2013; 122:2487-2490.