GeneID: 451


Common Name: BGLT3 Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NG_000007.3 (β-locus)
HUGO Symbol: BGLT3 Full Name: beta globin locus transcript 3
Exons: 1 Introns: N/A

BGLT3 is an erythroid-specific long non-coding RNA (lncRNA) implicated in the regulation of γ-globin gene expression. The transcription of BGLT3 is consistently associated with γ-globin transcription in erythroid cells. Deletion of BGLT3 using CRISPR/Cas9 editing shows that it specifically contributes to regulation of γ-globin genes. Experiments showed that the BGLT3 region is occupied by the NLI/Ldb1 core complex, indicating that γ-globin transcription or silencing is mediated through long-range LCR interactions that involved looping from the BGLT3 sequences to the γ-globin genes. The BGLT3 region is also occupied by the transcriptional repressor ETO2 (via NL1/Ldb1 complex) and the γ-globin repressor BCL11A. In high-HbF cells (mainly γ-globin expression), BGLT3 transcription is upregulated and the participation of the ETO2 in the NLI/Ldb1 complex and BCL11A occupancy at BGLT3 in reduced. BGLT3 can regulate γ-globin transcripion via multiple mechanisms, including maintaining an enhancer-like state, looping to the γ-globin genes and recruiting coregulators, possibly through the BGLT3 transcript itself. Sequence variation associated with γ-globin levels in sickle cell patients and a sample of carriers of β-thalassaemia mutations.

Synonyms: N/A


External Links

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Kiefer CM, Lee J, Hou C, Dale RK, Lee YT, Meier ER, Miller JL, Dean A, Distinct Ldb1/NLI complexes orchestrate γ-globin repression and reactivation through ETO2 in human adult erythroid cells., Blood, 118(23), 6200-8, 2011 PubMed
  2. Blobel GA, Crossley M, Charting a noncoding gene for γ-globin activation., Blood, 132(18), 1865-1867, 2018 PubMed
  3. Ivaldi MS, Diaz LF, Chakalova L, Lee J, Krivega I, Dean A, Fetal γ-globin genes are regulated by the long noncoding RNA locus., Blood, 132(18), 1963-1973, 2018 PubMed
Created on 2021-08-20 11:00:31, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.