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أعرض في EDS

Impact of transcription factors KLF1 and GATA1 on red blood cell antigen expression: a review.

التفاصيل البيبلوغرافية
العنوان: Impact of transcription factors KLF1 and GATA1 on red blood cell antigen expression: a review.
المؤلفون: Lopez GH; 1Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia.; 2School of Health, University of the Sunshine Coast, Sippy Downs, Queensland, Australia., Sarri ME; 1Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia., Flower RL; 1Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia.; 3Faculty of Health, Queensland University of Technology, Kelvin Grove, Queensland, Australia., Hyland CA; 1Research and Development, Australian Red Cross Lifeblood, Kelvin Grove, Queensland, Australia.; 3Faculty of Health, Queensland University of Technology, Kelvin Grove, Queensland, Australia.
المصدر: Immunohematology [Immunohematology] 2024 May 13; Vol. 40 (1), pp. 1-9. Date of Electronic Publication: 2024 May 13 (Print Publication: 2024).
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: American Red Cross Country of Publication: United States NLM ID: 8806387 Publication Model: eCollection Cited Medium: Print ISSN: 0894-203X (Print) Linking ISSN: 0894203X NLM ISO Abbreviation: Immunohematology Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Washington, D.C.] : American Red Cross, [1984-
مواضيع طبية MeSH: Kruppel-Like Transcription Factors*/genetics , GATA1 Transcription Factor*/genetics , Erythrocytes*/metabolism , Erythrocytes*/immunology , Blood Group Antigens*/genetics , Blood Group Antigens*/immunology, Humans ; Lutheran Blood-Group System/genetics ; Gene Expression Regulation ; Erythropoiesis/genetics
مستخلص: 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 Lu null 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.
(© 2024 Genghis H. Lopez et al., published by Sciendo.)
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فهرسة مساهمة: Keywords: GATA1 gene; In(Lu) phenotype; KLF1 gene; XS2 phenotype; blood group phenotype; transcription factors
المشرفين على المادة: 0 (Kruppel-Like Transcription Factors)
0 (GATA1 Transcription Factor)
0 (erythroid Kruppel-like factor)
0 (GATA1 protein, human)
0 (Blood Group Antigens)
0 (Lutheran Blood-Group System)
تواريخ الأحداث: Date Created: 20240513 Date Completed: 20240513 Latest Revision: 20240523
رمز التحديث: 20240524
DOI: 10.2478/immunohematology-2024-002
PMID: 38739025
قاعدة البيانات: MEDLINE
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