Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia
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ZBTB7A is not polymorphic and does not account for HbF variation in patients with sickle cell anemia.
“ZBTB7A is not polymorphic and does not account for HbF variation in patients with sickle cell anemia.26”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [26]
In the paper’s discussion of ZBTB7A variants (page unavailable), the authors conclude that common variants in ZBTB7A or its nearby regulatory regions are unlikely to account for HbF variation in sickle cell anemia. But they report a CGC insertion polymorphism in two patients, so the claim that ZBTB7A is not polymorphic is incorrect. The claim also states the HbF conclusion more definitively than the paper does. (LLM, conf=0.90)
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“occupancy data based on ChIPseq signals that were previously reported.(7) Figure 1 displays the position of these SNPs in putative binding motifs along with the experimentally defined ZBTB7A occupancy regions.”
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- Authors
- Shaikho, E. M., Habara, A. H., Alsultan, A., Al-Rubaish, A. M., Al-Muhanna, F., Naserullah, Z., Alsuliman, A., Qutub, H. O., Patra, P. K., Sebastiani, P., Baltrusaitis, K., Farrell, J. J., Jiang, Z., Luo, H.-Y., Chui, D. H. K., Al-Ali, A. K., & Steinberg, M. H.
- Affiliations
- Boston University (US)
- King Saud University (SA)
- Maternity and Children's Hospital (SA)
- King Faisal University (SA)
- Pt. Jawahar Lal Nehru Memorial Medical College (IN)
- Corresponding author
- Steinberg, Martin H.
- ORCID
- Venue
- Blood Cells, Molecules, and Diseases
- Publisher
- Elsevier BV
- Published
- 2016-07
- Volume
- 59
- Pages
- 49-51
- ISSN
- 1079-9796 (ISSN-L)
- PMC
- PMC6733020
- OpenAlex
- W2340174946
- Cited by
- 20
- References
- 15
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 1 · 2023: 1 · 2021: 1 · 2020: 3 · 2018: 3 · 2017: 2 · 2016: 3
- FWCI
- 1.63
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Blood Cells Molecules and Diseases (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- University of Dammam (SP 11/2011)
- NIH Bethesda, MD (R01 HL 068970, RC2 HL 101212, R01 87681, T32 HL007501, T32 GM074905)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Hemoglobin structure and function
- Health Sciences › Medicine › Hematology › Blood groups and transfusion
- Keywords
- ZBTB7A, LRF, sickle cell disease, beta-globin gene cluster, fetal hemoglobin, genetic modifiers, alpha-thalassemia, β-hemoglobinopathies, transcriptional regulation, therapeutic target
- MeSH terms
- Anemia, Sickle Cell, DNA-Binding Proteins, Female, Multigene Family, Humans, Male, Transcription Factors, Amino Acid Motifs, beta-Globins
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