[
1. Singleton BK, Frayne J, Anstee DJ. Blood group phenotypes resulting from mutations in erythroid transcription factors. Curr Opin Hematol 2012;19:486–93.]Search in Google Scholar
[
2. Chen H, Pugh BF. What do transcription factors interact with? J Mol Biol 2021;433:166883.]Search in Google Scholar
[
3. Caulier AL, Sankaran VG. Molecular and cellular mechanisms that regulate human erythropoiesis. Blood 2022;139:2450–9.]Search in Google Scholar
[
4. Perkins A, Xu X, Higgs DR, et al. Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood 2016;127:1856–62.]Search in Google Scholar
[
5. Barbarani G, Fugazza C, Strouboulis J, Ronchi AE. The pleiotropic effects of GATA1 and KLF1 in physiological erythropoiesis and in dyserythropoietic disorders. Front Physiol 2019;10:91.]Search in Google Scholar
[
6. Ling T, Crispino JD. GATA1 mutations in red cell disorders. IUBMB Life 2020;72:106–18.]Search in Google Scholar
[
7. Eernstman J, Veldhuisen B, Ligthart P, von Lindern M, van der Schoot CE, van den Akker E. Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals. Sci Rep 2021;11:18557.]Search in Google Scholar
[
8. Fraser NS, Knauth CM, Moussa A, et al. Genetic variants within the erythroid transcription factor, KLF1, and reduction of the expression of Lutheran and other blood group antigens: review of the In(Lu) phenotype. Transfus Med Rev 2019;33:111–7.]Search in Google Scholar
[
9. International Society of Blood Transfusion (ISBT). Red cell immunogenetics and blood group terminology. Available from http://www.isbtweb.org/working-parties/red-cell-immunogenetics-and-blood-group-terminology/. Accessed 2023 December.]Search in Google Scholar
[
10. Shimizu R, Yamamoto M. Recent progress in analyses of GATA1 in hematopoietic disorders: a mini-review. Front Hematol 2023;2.]Search in Google Scholar
[
11. Borg J, Patrinos GP, Felice AE, Philipsen S. Erythroid phenotypes associated with KLF1 mutations. Haematologica 2011;96:635–8.]Search in Google Scholar
[
12. Ferreira R, Ohneda K, Yamamoto M, Philipsen S. GATA1 function, a paradigm for transcription factors in hematopoiesis. Mol Cell Biol 2005;25:1215–27.]Search in Google Scholar
[
13. UniProt. Available from https://www.uniprot.org. Accessed 2023 December.]Search in Google Scholar
[
14. HUGO Gene Nomenclature Committee. Available from https://www.genenames.org/. Accessed 2023 December.]Search in Google Scholar
[
15. Ensembl. Available from https://www.ensembl.org. Accessed 2023 December.]Search in Google Scholar
[
16. National Center for Biotechnology Information. Available from https://www.ncbi.nlm.nih.gov. Accessed 2023 December.]Search in Google Scholar
[
17. Norton LJ, Hallal S, Stout ES, et al. Direct competition between DNA binding factors highlights the role of Krüppel-like factor 1 in the erythroid/megakaryocyte switch. Sci Rep 2017;7:3137.]Search in Google Scholar
[
18. Tallack MR, Magor GW, Dartigues B, et al. Novel roles for KLF1 in erythropoiesis revealed by mRNA-seq. Genome Res 2012;22:2385–98.]Search in Google Scholar
[
19. Magor GW, Tallack MR, Gillinder KR, et al. KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome. Blood 2015;125:2405–17.]Search in Google Scholar
[
20. Singleton BK, Burton NM, Green C, Brady RL, Anstee DJ. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. Blood 2008;112:2082–8.]Search in Google Scholar
[
21. Westman JS, Stenfelt L, Vidovic K, et al. Allele-selective RUNX1 binding regulates P1 blood group status by trans-criptional control of A4GALT. Blood 2018;131:1611–6.]Search in Google Scholar
[
22. Singleton BK, Lau W, Fairweather VS, et al. Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes. Blood 2011;118:3137–45.]Search in Google Scholar
[
23. Caria CA, Faà V, Ristaldi MS. Krüppel-like factor 1: a pivotal gene regulator in erythropoiesis. Cells 2022;11.]Search in Google Scholar
[
24. Rouillard AD, Gundersen GW, Fernandez NF, et al. The harmonizome: a collection of processed datasets gathered to serve and mine knowledge about genes and proteins. Database 2016;2016:baw100.]Search in Google Scholar
[
25. Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S. Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults. Haematologica 2012;97:340–3.]Search in Google Scholar
[
26. Liu D, Zhang X, Yu L, et al. KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood 2014;124:803–11.]Search in Google Scholar
[
27. Bhalla K, Chugh M, Mehrotra S, et al. Host ICAMs play a role in cell invasion by Mycobacterium tuberculosis and Plasmodium falciparum. Nature Commun 2015;6:6049.]Search in Google Scholar
[
28. Cowman AF, Tonkin CJ, Tham W-H, Duraisingh MT. The molecular basis of erythrocyte invasion by malaria parasites. Cell Host Microbe 2017;22:232–45.]Search in Google Scholar
[
29. Viprakasit V, Ekwattanakit S, Riolueang S, et al. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood 2014;123:1586–95.]Search in Google Scholar
[
30. Paccapelo C, Frison S, Truglio F, et al. Resolution of Lutheran typing discrepancies due to an In(Lu) phenotype. Vox Sang 2017;112(Suppl 1):228.]Search in Google Scholar
[
31. Henny C, Graber J, Stettler J, Lejon Crottet S, Hustinx H, Niederhauser C. A novel KLF1 allele leading to an In(Lu) phenotype. Vox Sang 2017;112(Suppl 1):228.]Search in Google Scholar
[
32. Maurer JL, Kavitsky V, Facey DA, Nance SJ, Keller J, Keller MA. Molecular characterization of Lu(a–b–) rare donors identifies two novel KLF1 alleles (abstract). Transfusion 2021;61(Suppl 3):55A.]Search in Google Scholar
[
33. Floch A, Vege S, Burgos A, et al. A new deletion in the KLF1 gene resulting in an In(Lu) phenotype (abstract). Transfusion 2021;61(Suppl 3):118A–119A.]Search in Google Scholar
[
34. Freson K, Wijgaerts A, Van Geet C. GATA1 gene variants associated with thrombocytopenia and anemia. Platelets 2017;28:731–4.]Search in Google Scholar
[
35. Ludwig LS, Lareau CA, Bao EL, et al. Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1. Blood 2022;139:2534–46.]Search in Google Scholar
[
36. Jurk K, Adenaeuer A, Sollfrank S, et al. Novel GATA1 variant causing a bleeding phenotype associated with combined platelet α-/δ-storage pool deficiency and mild dyserythropoiesis modified by a SLC4A1 variant. Cells 2022;11:3071.]Search in Google Scholar
[
37. Takasaki K, Kacena MA, Raskind WH, Weiss MJ, Chou ST. GATA1-related cytopenia. Available from https://www.ncbi.nlm.nih.gov/books/NBK1364/. Accessed 2023 December.]Search in Google Scholar
[
38. Norman PC, Tippett P, Beal RW. An Lu(a–b–) phenotype caused by an X-linked recessive gene. Vox Sang 1986;51: 49–52.]Search in Google Scholar
[
39. Singleton BK, Roxby DJ, Stirling JW, et al. A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a–b–) phenotype and mild macrothrombocytic thrombocytopenia. Br J Haematol 2013;161:139–42.]Search in Google Scholar
[
40. International Society for Blood Transfusion. Names for (ISBT_102) GATA1 alleles. Available from https://www.isbtweb.org/resource/gata1.html. Accessed 25 March 2024.]Search in Google Scholar
[
41. Sano R, Nakajima T, Takahashi K, et al. Expression of ABO blood-group genes is dependent upon an erythroid cell-specific regulatory element that is deleted in persons with the B(m) phenotype. Blood 2012;119:5301–10.]Search in Google Scholar
[
42. Möller M, Lee YQ, Vidovic K, et al. Disruption of a GATA1-binding motif upstream of XG/PBDX abolishes Xg(a) expression and resolves the Xg blood group system. Blood 2018;132:334–8.]Search in Google Scholar
[
43. El Nemer W, Rahuel C, Colin Y, Gane P, Cartron JP, Le Van Kim C. Organization of the human LU gene and molecular basis of the Lua/Lub blood group polymorphism. Blood 1997;89: 4608–16.]Search in Google Scholar
[
44. Wu PC, Lee YQ, Möller M, Storry JR, Olsson ML. Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome. Nature Commun 2023;14:5001.]Search in Google Scholar
[
45. Fennell K, Hoffman R, Yoshida K, et al. Effect on gene expression of three allelic variants in GATA motifs of ABO, RHD, and RHCE regulatory elements. Transfusion 2017;57:2804–8.]Search in Google Scholar
[
46. Tournamille C, Colin Y, Cartron JP, Le Van Kim C. Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy-negative individuals. Nat Genet 1995;10:224–8.]Search in Google Scholar
[
47. Peiper SC, Wang ZX, Neote K, et al. The Duffy antigen/receptor for chemokines (DARC) is expressed in endothelial cells of Duffy negative individuals who lack the erythrocyte receptor. J Exp Med 1995;181:1311–7.]Search in Google Scholar
[
48. Iwamoto S, Li J, Omi T, Ikemoto S, Kajii E. Identification of a novel exon and spliced form of Duffy mRNA that is the predominant transcript in both erythroid and postcapillary venule endothelium. Blood 1996;87:378–85.]Search in Google Scholar
[
49. Yeh CC, Chang CJ, Twu YC, et al. The molecular genetic background leading to the formation of the human erythroid-specific Xg(a)/CD99 blood groups. Blood Adv 2018;2:1854–64.]Search in Google Scholar
[
50. Rowe JA, Moulds JM, Newbold CI, Miller LH. P. falciparum rosetting mediated by a parasite-variant erythrocyte membrane protein and complement-receptor 1. Nature 1997;388:292–5.]Search in Google Scholar
[
51. Moulds JM, Zimmerman PA, Doumbo OK, et al. Molecular identification of Knops blood group polymorphisms found in long homologous region D of complement receptor 1. Blood 2001;97:2879–85.]Search in Google Scholar
[
52. McGowan E, Wu P, Lee Y, Ghosh S, Storry J, Olsson M. Disruption of a KLF motif in intron 1 of RHCE*c alleles alters recruitment of transcription factors and causes C/c-related changes of RH gene and protein expression. Vox Sang 2023;118(Suppl 1):24.]Search in Google Scholar
