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LOC108281159 PATRR17 recombination region [ Homo sapiens (human) ]

Gene ID: 108281159, updated on 27-Aug-2024

Summary

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Gene symbol
LOC108281159
Gene description
PATRR17 recombination region
Gene type
biological region
Feature type(s)
misc_feature: sequence_alteration
misc_recomb: chromosome_breakpoint
misc_structure
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 found within an intron of the neurofibromin 1 (NF1) gene on the q arm of chromosome 17, and is known to undergo recombination, forming either translocations or deletions. This region contains a palindromic AT-rich repeat (PATRR) known as PATRR17, and is highly polymorphic. Both long and short versions of the palindromic region have been identified, and are known as 17-L-PATRR and 17-S-PATRR for the long and short versions, respectively. The majority of DNA breaks are thought to occur in loops of the cruciform structure formed by this palindromic region. Recombination with another palindromic region found on chromosome 22 (PATRR22) can result in translocation events. Recombination with sequences within the NF1 gene have also been observed, resulting in deletions. Both the translocation and deletion events disrupt the NF1 gene, resulting in neurofibromatosis, a tumor disorder characterized by cafe au lait spots, neurofibromas, and Lisch nodules. Recombination breakpoints from different individuals are reported as breakpoint sub-regions on the record. [provided by RefSeq, Apr 2021]
Annotation information
Annotation category: only annotated on patches unit in reference assembly
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Genomic context

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See LOC108281159 in Genome Data Viewer
Location:
17q11.2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 (PATCHES) NW_025791803.1 (414011..414185)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32280520..32280690)

NW_025791803.1Genomic Context describing neighboring genes Neighboring gene neurofibromin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12010 Neighboring gene ecotropic viral integration site 2B Neighboring gene ecotropic viral integration site 2A Neighboring gene NF1 intron 50 Alu-mediated recombination region Neighboring gene Sharpr-MPRA regulatory region 6872 Neighboring gene adenylate kinase 4 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29717908-29718497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29727239-29727740 Neighboring gene RAB11 family interacting protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29738471-29739436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29741367-29742330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29742806-29743646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29743647-29744486 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29751937-29752664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29760725-29761454

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. Snaps and mends: DNA breaks and chromosomal translocations. Javadekar SM, et al. FEBS J, 2015 Jul. PMID 25913527
  2. New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus. Lewis SM, et al. Nucleic Acids Res, 2005 Dec 9. PMID 16340004, Free PMC Article
  3. Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates. Inagaki H, et al. Hum Mutat, 2005 Oct. PMID 16116616, Free PMC Article
  4. The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. Kurahashi H, et al. Am J Hum Genet, 2003 Mar. PMID 12557125, Free PMC Article
  5. The second case of a t(17;22) in a family with neurofibromatosis type 1: sequence analysis of the breakpoint regions. Kehrer-Sawatzki H, et al. Hum Genet, 1997 Feb. PMID 9048928

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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Other Names

  • palindromic AT-rich repeat chromosome 17 recombination region

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_051119.2 

    Range
    101..275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791803.1 Reference GRCh38.p14 PATCHES

    Range
    414011..414185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    32280520..32280690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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