Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency

Blood

Volumn 124, Issue 20, 2014, Pages 3151-3154

  Costa, Joana R ^a,b   Caputo, Valentina S ^a   Makarona, Kalliopi ^a   Layton, D Mark ^a   Roberts, Irene A G ^c   Almeida, Antonio M ^d   Karadimitris, Anastasios ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b NOVA MEDICAL SCHOOL   (Portugal)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSYLPHOSPHATIDYLINOSITOL; MESSENGER RNA; PIGM PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SP1; UNCLASSIFIED DRUG; MANNOSYLTRANSFERASE; PIGM PROTEIN, HUMAN;

ARTICLE; B LYMPHOCYTE; CELL SPECIFICITY; CELL SURFACE; CELL TYPE; ERYTHROID CELL; GC RICH SEQUENCE; GENETIC DISORDER; HUMAN; HUMAN CELL; INHERITED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; PHENOTYPE; PROMOTER REGION; PROTEIN BINDING; PROTEIN EXPRESSION; TRANSCRIPTION REGULATION; DEFICIENCY; ERYTHROCYTE; GENETICS; METABOLISM; MUTATION; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PATHOLOGY; TRANSCRIPTION INITIATION;

B-LYMPHOCYTES; ERYTHROCYTES; GLYCOSYLPHOSPHATIDYLINOSITOLS; HEMOGLOBINURIA, PAROXYSMAL; HUMANS; MANNOSYLTRANSFERASES; MUTATION; PHENOTYPE; PROMOTER REGIONS, GENETIC; SP1 TRANSCRIPTION FACTOR; TRANSCRIPTIONAL ACTIVATION;

EID: 84911394061     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-09-598813     Document Type: Article

References (20)

1. Krawitz PM, Schweiger MR, Rödelsperger C, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010;42(10):827-829.
2. Murakami Y, Kanzawa N, Saito K, et al. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. J Biol Chem. 2012;287(9):6318-6325.
3. Krawitz PM, Murakami Y, Hecht J, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012;91(1):146-151.
4. Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012;90(4):685-688.
5. Maydan G, Noyman I, Har-Zahav A, et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J Med Genet. 2011;48(6):383-389.
6. Johnston JJ, Gropman AL, Sapp JC, et al. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet. 2012;90(2):295-300.
7. Almeida AM, Murakami Y, Layton DM, et al. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med. 2006;12(7):846-851.
8. Almeida AM, Murakami Y, Baker A, et al. Targeted therapy for inherited GPI deficiency. N Engl J Med. 2007;356(16):1641-1647.
9. Caputo VS, Costa JR, Makarona K, et al. Mechanism of Polycomb recruitment to CpG islands revealed by inherited disease-associated mutation. Hum Mol Genet. 2013;22(16):3187-3194.
10. Hill A, Richards SJ, Hillmen P. Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2007;137(3):181-192.
11. Luzzatto L, Risitano AM, Notaro R. Paroxysmal nocturnal hemoglobinuria and eculizumab. Haematologica. 2010;95(4):523-526.
12. Takeda J, Miyata T, Kawagoe K, et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993;73(4):703-711.
13. Bessler M, Mason PJ, Hillmen P, et al. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO J. 1994;13(1):110-117.
14. Al-Sarraj A, Day RM, Thiel G. Specificity of transcriptional regulation by the zinc finger transcription factors Sp1, Sp3, and Egr-1. J Cell Biochem. 2005;94(1):153-167.
15. Crispino JD. GATA1 in normal and malignant hematopoiesis. Semin Cell Dev Biol. 2005;16(1):137-147.
16. Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood. 2011;118(8):2044-2054.
17. Tallack MR, Whitington T, Yuen WS, et al. A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells. Genome Res. 2010;20(8):1052-1063.
18. Kaczynski J, Cook T, Urrutia R. Sp1- and Krüppel-like transcription factors. Genome Biol. 2003;4(2):206.
19. Hasan NM, MacDonald MJ. Sp/Krüppel-like transcription factors are essential for the expression of mitochondrial glycerol phosphate dehydrogenase promoter B. Gene. 2002;296(1-2):221-234.
20. Bieker JJ. Isolation, genomic structure, and expression of human erythroid Krüppel-like factor (EKLF). DNA Cell Biol. 1996;15(5):347-352.