LOC106099062 HBB recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC106099062
Gene description: HBB recombination region
Gene type: biological region
Feature type(s): misc_feature: nucleotide_motif
misc_recomb: meiotic, non_allelic_homologous
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region is known to undergo non-allelic homologous recombination (NAHR) with other regions within this gene family, such as the HBD (hemoglobin, delta) recombination region, which is located about 7.4 kb downstream of this region, and the HBG1 (hemoglobin, gamma a) recombination region, located about 20 kb downstream of this region. This biological region partially overlaps with the HBB gene. NAHR between these regions can result in genomic rearrangements, including deletions of the intervening sequence. Such deletions result in gene fusions of the hemoglobin subunits. The region represented here is composed of multiple sub-regions that have been identified as NAHR exchange sites in different individuals, and an overlapping meiotic recombination hotspot. NAHR exchanges using the HBB Lepore-Boston-Washington, HBB Lepore-ARUP, HBB Lepore-Baltimore, and HBB Lepore-Hollandia sub-regions, and similar sequences within the HBD recombination region create unique fusions of the delta and beta hemoglobin subunits. Similarly, NAHR exchanges within the HBB Lepore-Kenya sub-region and a similar sequence within the HBG1 recombination region can result in a deletion, and fusion of the gamma A and beta hemoglobin subunits. Genomic rearrangements within the globin gene family can result in hemoglobinopathies and/or thalassemias. Multiple independent deletions of nearby regions have also been described, some of which are thought to be the result of non-homologous recombination events. [provided by RefSeq, Sep 2015]
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Genomic context

Location:: 11p15.5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5226570..5228834)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5285938..5288207)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5247800..5250064)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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Phenotypes

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Variation

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General gene information

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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.