This is the first report of a previously undescribed mutation in Indian subjects of the CACCC box of promoter region for beta-globin, which in combination with a common mutation produces thalassemia major in the offspring of the family.
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Is the Cis-Element CACCC-Box a Master Regulatory Element during Cardiovascular Disease? A Bioinformatics Approach from the Perspective of the Krüppel-like Family of Transcription Factors.
Life (Basel)
April 2024
Departamento de Bioquímica y Medicina Molecular, Facultad de Medicina, Universidad Autónoma de Nuevo León, Monterrey 64460, Nuevo León, Mexico.
The CACCC-box motif emerges as a pivotal cis-regulatory element implicated in diverse developmental processes and diseases, particularly cardiovascular diseases (CVDs). This study centers on the intricate interplay between the CACCC-box and its binding proteins such as: the Krüppel-Like Family (KLF) of transcription factors as primary effectors in the context of CVDs. Our analysis was through a bioinformatics approach, which revealed significant transcriptional activity among KLF subgroup 2, exhibiting the highest number of interactions focusing on the established roles: pluripotency, cancer, and cardiovascular development and diseases.
View Article and Find Full Text PDFDescription of a Rare β-Globin Gene Mutation: -86 (C>G) (HBB: c.-136C>G) Observed in a Syrian Family.
Hemoglobin
May 2018
a Molecular Biology and Biotechnology Department, Human Genetics Division , Atomic Energy Commission of Syria , Damascus , Syria.
We present the description of a β-thalassemia (β-thal) -86 (C>G) (HBB: c.-136C>G) mutation in a Syrian family from Damascus, As-Suwayda Province, Syria, who was referred to the laboratory for prenatal diagnosis (PND). The mutation was found in the mother in a homozygous state, while it was in the father and in the amniotic fluid sample in a heterozygous state.
View Article and Find Full Text PDFDirect targets of pSTAT5 signalling in erythropoiesis.
PLoS One
September 2017
Cancer Genomics Group, Mater Research Institute - University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, Queensland, Australia.
Erythropoietin (EPO) acts through the dimeric erythropoietin receptor to stimulate proliferation, survival, differentiation and enucleation of erythroid progenitor cells. We undertook two complimentary approaches to find EPO-dependent pSTAT5 target genes in murine erythroid cells: RNA-seq of newly transcribed (4sU-labelled) RNA, and ChIP-seq for pSTAT5 30 minutes after EPO stimulation. We found 302 pSTAT5-occupied sites: ~15% of these reside in promoters while the rest reside within intronic enhancers or intergenic regions, some >100kb from the nearest TSS.
View Article and Find Full Text PDFPhenotype of mutations in the promoter region of the β-globin gene.
J Clin Pathol
October 2017
Servicio de Hematología, Hospital Clínico San Carlos, Madrid, Spain.
Background: β-Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age.
View Article and Find Full Text PDFThe Transcription Regulator Krüppel-Like Factor 4 and Its Dual Roles of Oncogene in Glioblastoma and Tumor Suppressor in Neuroblastoma.
For Immunopathol Dis Therap
January 2016
Department of Pathology, Microbiology, and Immunology, University of South Carolina School of Medicine, Building 2, Room C11, 6439 Garners Ferry Road, Columbia, SC 29209; Tel.: 803-216-3420.
The () gene is located on chromosome 9q31. All of the currently known 17 KLF transcription regulators that have similarity with members of the specificity protein family are distinctly characterized by the Cys/His zinc finger motifs at their carboxyl terminals for preferential binding to the GC/GT box or the CACCC element of the gene promoter and enhancer regions. KLF4 is a transcriptional regulator of cell proliferation, differentiation, apoptosis, migration, and invasion, emphasizing its importance in diagnosis and prognosis of particular tumors.
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