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Impact of transcription factors KLF1 and GATA1 on red blood cell antigen expression: a review.
Lopez, Genghis H; Sarri, Mia E; Flower, Robert L; Hyland, Catherine A.
Afiliação
  • Lopez GH; 1Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia.
  • Sarri ME; 2School of Health, University of the Sunshine Coast, Sippy Downs, Queensland, Australia.
  • Flower RL; 1Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia.
  • Hyland CA; 1Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia.
Immunohematology ; 40(1): 1-9, 2024 Apr 01.
Article em En | MEDLINE | ID: mdl-38739025
ABSTRACT
KLF transcription factor 1 (KLF1) and GATA binding protein 1 (GATA1) are transcription factors (TFs) that initiate and regulate transcription of the genes involved in erythropoiesis. These TFs possess DNA-binding domains that recognize specific nucleotide sequences in genes, to which they bind and regulate transcription. Variants in the genes that encode either KLF1 or GATA1 can result in a range of hematologic phenotypes-from benign to severe forms of thrombocytopenia and anemia; they can also weaken the expression of blood group antigens. The Lutheran (LU) blood group system is susceptible to TF gene variations, particularly KLF1 variants. Individuals heterozygous for KLF1 gene variants show reduced Lutheran antigens on red blood cells that are not usually detected by routine hemagglutination methods. This reduced antigen expression is referred to as the In(Lu) phenotype. For accurate blood typing, it is important to distinguish between the In(Lu) phenotype, which has very weak antigen expression, and the true Lunull phenotype, which has no antigen expression. The International Society of Blood Transfusion blood group allele database registers KLF1 and GATA1 variants associated with modified Lutheran expression. Here, we review KLF1 and recent novel gene variants defined through investigating blood group phenotype and genotype discrepancies or, for one report, investigating cases with unexplained chronic anemia. In addition, we include a review of the GATA1 TF, including a case report describing the second GATA1 variant associated with a serologic Lu(a-b-) phenotype. Finally, we review both past and recent reports on variations in the DNA sequence motifs on the blood group genes that disrupt the binding of the GATA1 TF and either remove or reduce erythroid antigen expression. This review highlights the diversity and complexity of the transcription process itself and the need to consider these factors as an added component for accurate blood group phenotyping.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Antígenos de Grupos Sanguíneos / Eritrócitos / Fator de Transcrição GATA1 / Fatores de Transcrição Kruppel-Like Limite: Humans Idioma: En Revista: Immunohematology Assunto da revista: ALERGIA E IMUNOLOGIA / HEMATOLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Antígenos de Grupos Sanguíneos / Eritrócitos / Fator de Transcrição GATA1 / Fatores de Transcrição Kruppel-Like Limite: Humans Idioma: En Revista: Immunohematology Assunto da revista: ALERGIA E IMUNOLOGIA / HEMATOLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Austrália
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