Effect of TATA Box polymorphisms in human β-globin gene promoter associated with β-thalassemia on interaction with TATA-binding protein

Autor:	Tatyana I. Merkulova, P. M. Ponomarenko, I. A. Drachkova, T. V. Arshinova, Ludmila Savinkova, N. A. Kolchanov
Rok vydání:	2011
Předmět:	Genetics biology TATA box Promoter TAF9 RNA polymerase II Molecular biology hemic and lymphatic diseases TAF2 biology.protein Animal Science and Zoology Transcription factor II D TATA-binding protein Agronomy and Crop Science Transcription factor II A
Zdroj:	Russian Journal of Genetics: Applied Research. 1:183-188
ISSN:	2079-0600 2079-0597
DOI:	10.1134/s207905971103004x
Popis:	Single nucleotide polymorphisms (SNPs) are the most common type of genetic variability in humans. Hereditary disorders in the hemoglobin synthesis caused by SNPs in the TATA boxes of the human β-globin gene promoter are associated with β-thalassemia of varying severity. The TATA-binding protein (TBP) is the first basal transcription factor that recognizes and binds TATA boxes in TATA-box-containing promoters and initiates the assembly of RNA polymerase II transcription complexes. This report is the first to present quantitative parameters (Kd) of human TBP interaction with SNP-containing TATA boxes of the β-globin gene promoter. These data are in agreement with literature data on the decrease in normal β-globin RNA synthesis in patients with β-thalassemia.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::46144f8a36a300b46858dacd421c4750 https://doi.org/10.1134/s207905971103004x Zobrazit plný text záznamu Full text from SpringerLink