ArticleGenome research2000
Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human.
Article in Genome research, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 57 citations in OpenAlex.
- Technical reliability of genotyping SNPs for forensic DNA phenotyping using SNaPshot- and MPS-based assays.International journal of legal medicine · 2026Article
- Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.International journal of molecular sciences · 2023Article
- Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.European journal of human genetics : EJHG · 2016Article
- Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2.Journal of proteome research · 2015Article
- HERC2 targets the iron regulator FBXL5 for degradation and modulates iron metabolism.The Journal of biological chemistry · 2014Article
- Angelman syndrome: review of clinical and molecular aspects.The application of clinical genetics · 2014Review
- Inverted low-copy repeats and genome instability--a genome-wide analysis.Human mutation · 2013Article
- Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.Molecular cytogenetics · 2011Article
- The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.Neurobiology of disease · 2010Review
- Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase.PLoS genetics · 2009Article
- Comparison of whole genome linkage scans in premenopausal and postmenopausal women: no bone-loss-specific QTLs were implicated.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2009Article
- Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.American journal of medical genetics. Part A · 2008Article
- Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.Human genetics · 2008Article
- Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.American journal of human genetics · 2008Article
- Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.BMC genetics · 2008Article
- Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16.Genome research · 2005Article
- Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.Expert reviews in molecular medicine · 2005Review
- Molecular markers closely linked to fusarium resistance genes in chickpea show significant alignments to pathogenesis-related genes located on Arabidopsis chromosomes 1 and 5.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2003Article
- Angelman syndrome: a review of the clinical and genetic aspects.Journal of medical genetics · 2003Review
- Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster.Genome biology · 2003Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recombination between chromosome-specific low-copy repeats (duplicons) is an underlying mechanism for several genetic disorders. Recently, a chromosome 15 duplicon was discovered in the common breakpoint regions of Prader-Willi and Angelman syndrome deletions. We identified previously the large HERC2 transcript as an ancestral gene in this duplicon, with approximately 11 HERC2-containing duplicons, and demonstrated that recessive mutations in mouse Herc2 lead to a developmental syndrome, juvenile development and fertility 2 (jdf2). We have now constructed and sequenced a genomic contig of HERC2, revealing a total of 93 exons spanning approximately 250 kb and a CpG island promoter. A processed ribosomal protein L41 pseudogene occurs in intron 2 of HERC2, and putative VNTRs occur in intron 70 (28 copies, approximately 76-bp repeat) and 3' exon 40 through intron 40 (6 copies, approximately 62-bp repeat). Sequence comparisons show that HERC2-containing duplicons have undergone several deletion, inversion, and dispersion events to form complex duplicons in 15q11, 15q13, and 16p11. To further understand the developmental role of HERC2, a highly conserved Drosophila ortholog was characterized, with 70% amino acid sequence identity to human HERC2 over the carboxy-terminal 743 residues. Combined, these studies provide significant insights into the structure of complex duplicons and into the evolutionary pathways of formation, dispersal, and genomic instability of duplicons. Our results establish that some genes not only have a protein coding function but can also play a structural role in the genome.
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