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    Hbb-ar hemoglobin, activating region [ Mus musculus (house mouse) ]

    Gene ID: 15128, updated on 9-Aug-2024

    Summary

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    Gene symbol
    Hbb-ar
    Gene description
    hemoglobin, activating region
    Gene type
    biological region
    Feature type(s)
    protein_bind
    regulatory: DNase_I_hypersensitive_site, enhancer, enhancer_blocking_element, locus_control_region, promoter, transcriptional_cis_regulatory_region
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HS1; Rr320; Hbb-lcr
    Summary
    This genomic sequence, which spans 24 kb upstream of the hemoglobin Y, beta-like embryonic chain (Hbb-y) gene, represents the 5' regulatory region of the mouse beta-globin gene cluster on chromosome 7. It includes a locus control region (LCR), which is a major element controlling expression of the downstream beta-globin genes, which are organized on the chromosome in their order of developmental expression. The genes are: Hbb-y, Hbb-bh1, Hbb-bh2, Hbb-bh3, Hbb-bs and Hbb-bt in the 'single' haplotype (as represented in the GRCm38 primary reference assembly C57BL/6J strain allele), or Hbb-y, Hbb-bh0, Hbb-bh1, Hbb-bh2, Hbb-bh3, Hbb-b1 and Hbb-b2 in the 'diffuse' haplotype (as represented in the GRCm38 alternate BALB/c strain allele). This regulatory region also includes the Hbb-y promoter and several DNase I hypersensitive sites (HSs; 5'HS1-5'HS6 in the entire region, 5'HS1-5'HS5 in the LCR), some of which possess mild enhancer activity in erythroid cells. The HSs bind to erythroid transcription factors and are associated with regulatory complexes involved in beta-globin gene expression and the organization of local chromatin domain structure. This region also includes a weak enhancer-blocking element at 5'HS5, and an enhancer that was validated by the STARR-seq (self-transcribing active regulatory region sequencing) reporter assay in ground-state (2iL) and metastable (SL) mouse embryonic stem cells, where it was defined as a C1 class enhancer that overlaps an active chromatin signature. This locus additionally includes a B cell regulatory element that was identified by FAIRE-seq (formaldehyde-assisted isolation of regulatory elements sequencing), and which was validated as an enhancer by STARR-seq in lipopolysaccharide-activated mouse splenic B cells. Chromosome conformation capture assays show that the LCR is an integral part of the beta-globin active chromatin hub in erythroid cells, where it undergoes looping interactions with distal 5' and 3' HSs (HS-62.5, HS-60.7 and 3'HS1) and the active beta-globin gene promoters. Mutations in the orthologous human LCR result in beta-thalassemias and beta-hemoglobinopathies, and thus this mouse region has been intensively studied as a model for beta-globin gene regulation. [provided by RefSeq, Oct 2023]
    Orthologs
    human all
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    Genomic context

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    See Hbb-ar in Genome Data Viewer
    Location:
    7 E2; 7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (103501973..103526752)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (103852766..103877545)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene hemoglobin beta, bh2 Neighboring gene hemoglobin Z, beta-like embryonic chain Neighboring gene beta-globin HS-E1 embryonic enhancer Neighboring gene hemoglobin Y, beta-like embryonic chain Neighboring gene DnaJ heat shock protein family (Hsp40) member C19, pseudogene Neighboring gene olfactory receptor family 51 subfamily B member 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Quantification of DNaseI-sensitivity by real-time PCR: quantitative analysis of DNaseI-hypersensitivity of the mouse beta-globin LCR. McArthur M, et al. J Mol Biol, 2001 Oct 12. PMID 11601844, Free PMC Article
    2. Dynamic changes in transcription factor complexes during erythroid differentiation revealed by quantitative proteomics. Brand M, et al. Nat Struct Mol Biol, 2004 Jan. PMID 14718926
    3. Multiple regions of p45 NF-E2 are required for beta-globin gene expression in erythroid cells. Bean TL, et al. Nucleic Acids Res, 1997 Jun 15. PMID 9171106, Free PMC Article
    4. Cooperative activities of hematopoietic regulators recruit RNA polymerase II to a tissue-specific chromatin domain. Johnson KD, et al. Proc Natl Acad Sci U S A, 2002 Sep 3. PMID 12193659, Free PMC Article
    5. Sequential changes in chromatin structure during transcriptional activation in the beta globin LCR and its target gene. Kim K, et al. Int J Biochem Cell Biol, 2010 Sep. PMID 20561915

    See all (167) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Other Names

    • STARR-positive B cell enhancer ABC_E2838
    • STARR-seq mESC enhancer starr_19727
    • beta globin LAR
    • beta-globin DCR
    • beta-globin LCR
    • beta-globin beta-globin
    • beta-globin locus control region
    • beta-globin locus-activating region
    • regulatory region 320

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_055003.1 

      Range
      101..24880
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      103501973..103526752
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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