The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.

No abstract is available for this paper.

• Publication year

  1999

• Venue

  Human Molecular Genetics

• Publication date

  1999-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/8.3.533PMID 9949213
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular Cloning: A Laboratory Manual

  2001cited by this paper
• A model system to study genomic imprinting of human genes.

  1998cited by this paper
• A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

  1998cited by this paper
• Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

  1998cited by this paper
• The 1.7 Å crystal structure of the regulator of chromosome condensation (RCC1) reveals a seven-bladed propeller

  1998cited by this paper
• Imprinting in Prader-Willi and Angelman syndromes.

  1998cited by this paper
• The diversity of Rab proteins in vesicle transport.

  1997cited by this paper
• Comparable rates of gene loss and functional divergence after genome duplications early in vertebrate evolution.

  1997cited by this paper
• The mammalian acrosome reaction: Gateway to sperm fusion with the oocyte?

  1997cited by this paper
• Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

  1997cited by this paper
• A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70

  1997cited by this paper
• Vesicle traffic: get your coat!

  1997cited by this paper
• Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice

  1997cited by this paper
• Using targeted large deletions and high-efficiency N-ethyl-N-nitrosourea mutagenesis for functional analyses of the mammalian genome.

  1997cited by this paper
• Site-specific phosphorylation of IkappaBalpha by a novel ubiquitination-dependent protein kinase activity.

  1996cited by this paper
• ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins.

  1996cited by this paper
• Ubiquitination of a yeast plasma membrane receptor signals its ligand-stimulated endocytosis.

  1996cited by this paper
• The 2.0 Å crystal structure of a heterotrimeric G protein

  1996cited by this paper
• p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins.

  1996cited by this paper
• Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution.

  1996influential reference
• Defects in RNA splicing and the consequence of shortened translational reading frames.

  1996cited by this paper
• Comparative analysis of 1196 orthologous mouse and human full-length mRNA and protein sequences.

  1996cited by this paper
• Interpreting cDNA sequences: Some insights from studies on translation

  1996cited by this paper
• Ubiquitin, proteasomes, and the regulation of intracellular protein degradation.

  1995cited by this paper
• Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.

  1995cited by this paper
• Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

  1995cited by this paper
• A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase.

  1995cited by this paper
• A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase.

  1995cited by this paper
• Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.

  1995cited by this paper
• The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2.

  1995cited by this paper
• Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease.

  1994cited by this paper
• The role of clathrin, adaptors and dynamin in endocytosis.

  1994cited by this paper
• De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

  1994cited by this paper
• Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.

  1993cited by this paper
• RCC1 in the cell cycle: the regulator of chromosome condensation takes on new roles.

  1993cited by this paper
• Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

  1992cited by this paper
• Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.

  1992cited by this paper
• A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

  1992cited by this paper
• The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

  1992cited by this paper
• The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7.

  1991cited by this paper
• Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

  1990cited by this paper
• Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.

  1990cited by this paper
• Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation.

  1987cited by this paper
• Male sterility caused by p6H and qk mutations is not corrected in chimeric mice.

  1987cited by this paper
• Endocrinological findings in sterile pink-eyed mice.

  1975cited by this paper
• The effects of mutant p-alleles on the reproductive system in mice.

  1974cited by this paper
• Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse.

  1971cited by this paper

• HERC2 as a Potential Biomarker for Prognosis and Response to Bevacizumab in Ovarian Cancer: A Bioinformatics Approach

  2025cites this paper
• Structural analysis of HERC2/UBE3A and HERC2/DOCK10 complexes provides new insights into the molecular basis of Angelman, Angelman-like and Dup15q Syndromes

  2025cites this paper
• The disordered negatively charged C‐terminus of the large HECT E3 ubiquitin ligase HERC2 provides structural and thermal stability to the HECT C‐lobe

  2024cites this paper
• Molecular and behavioral consequences of Ube3a gene overdosage in mice

  2022cites this paper
• ASPM promotes homologous recombination-mediated DNA repair by safeguarding BRCA1 stability

  2021cites this paper
• HPV Oncoproteins and the Ubiquitin Proteasome System: A Signature of Malignancy?

  2020cites this paper
• Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder.

  2019cites this paper
• Identification of long noncoding RNA HERC2P2 as a tumor suppressor in glioma.

  2019cites this paper
• HERCing: Structural and Functional Relevance of the Large HERC Ubiquitin Ligases

  2019cites this paper
• Insights into the ubiquitin-proteasome system of human embryonic stem cells

  2018cites this paper
• Functional and pathological relevance of HERC family proteins: a decade later

  2016cites this paper
• Endothelial SIRT1 prevents adverse arterial remodeling by facilitating HERC2-mediated degradation of acetylated LKB1

  2016cites this paper
• Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature

  2016cites this paper
• RING-, HECT-, and RBR-type E3 Ubiquitin Ligases: Involvement in Human Cancer.

  2016cites this paper
• Angelman syndrome — insights into a rare neurogenetic disorder

  2016cites this paper
• Estudio de variantes estructurales del genoma humano asociadas a trastornos del neurodesarrollo

  2016cites this paper
• The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination

  2016cites this paper
• Expression of HERC4 in lung cancer and its correlation with clinicopathological parameters.

  2015cites this paper
• Genetic Determinants of Skin Color, Aging, and Cancer

  2015cites this paper
• A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

  2015cites this paper
• Kagami–Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

  2015cites this paper
• Degradation of the Deubiquitinating Enzyme USP33 Is Mediated by p97 and the Ubiquitin Ligase HERC2*

  2014cites this paper
• Michael Ubiquitin Ligase HERC 2 Enzyme USP 33 Is Mediated by p 97 and the Degradation of the Deubiquitinating Protein Synthesis and Degradation

  2014cites this paper
• Caracterización funcional de la interacción de la proteïna p53 con la ubiquitina ligasa HERC2

  2014cites this paper
• The E3 Ubiquitin Protein Ligase HERC2 Modulates the Activity of Tumor Protein p53 by Regulating Its Oligomerization*

  2014influential citation
• The expression and clinical significance of HERC4 in breast cancer

  2013cites this paper
• Mutation of HERC2 causes developmental delay with Angelman-like features

  2012cites this paper
• Identification and Proteomic Analysis of Distinct UBE3A/E6AP Protein Complexes

  2012cites this paper
• THE VELOCARDIOFACIAL SYNDROME THE PRADER-WILLI SYNDROME AND THE ANGELMAN SYNDROME NEUROFIBROMATOSIS THE WILLIAMS SYNDROME

  2011cites this paper
• Combining magnetic resonance spectroscopy and molecular genomics offers better accuracy in brain tumor typing and prediction of survival than either methodology alone.

  2011cites this paper
• Functions of the ubiquitin system in mammalian spermatogenesis and skeletal muscle

  2011cites this paper
• Microdeletions and molecular genetics

  2011cites this paper
• HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes

  2010cites this paper
• HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes

  2010cites this paper
• Genomisches Imprinting und Imprintingerkrankungen beim Menschen

  2010cites this paper
• HERC 2 Is an E 3 Ligase That Targets BRCA 1 for Degradation

  2010cites this paper
• Obesity and testicular function.

  2010cites this paper
• HERC2 is an E3 ligase that targets BRCA1 for degradation.

  2010cites this paper
• Expressionsanalysen geprägter Gene in der Prader-Willi-/Angelman-Syndrom-Region

  2010cites this paper
• HERCulean giant orchestrates ubiquitin-mediated signaling on damaged chromosomes

  2010cites this paper
• The Ubiquitin-Specific Peptidase USP15 Regulates Human Papillomavirus Type 16 E6 Protein Stability

  2009cites this paper
• Mapping and phenotyping genes in the Del(13)Svea36H region of mouse chromosome 13

  2009cites this paper
• Towards understanding the role of the ubiquitinligase E6AP in human disease

  2009cites this paper
• Progressive Purkinje Cell Degeneration in tambaleante Mutant Mice Is a Consequence of a Missense Mutation in HERC1 E3 Ubiquitin Ligase

  2009influential citation
• The RCC1 superfamily: from genes, to function, to disease.

  2008cites this paper
• Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

  2008cites this paper
• Highly homologous HERC proteins localize to endosomes and exhibit specific interactions with hPLIC and Nm23B

  2008cites this paper
• Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15

  2008cites this paper
• Differential sensitivity of mouse strains to an N-alkylated imino sugar: glycosphingolipid metabolism and acrosome formation.

  2008cites this paper
• PRIMATE GENE AND GENOME EVOLUTION DRIVEN BY SEGMENTAL DUPLICATION ON CHROMOSOME 16

  2008cites this paper
• Genes in the Aetiology of Oculocutaneous Albinism in Sub-Saharan Africa and a Possible Role in Tuberculosis Susceptibility

  2008cites this paper
• Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

  2008cites this paper
• Drosophila mind bomb2 is required for maintaining muscle integrity and survival

  2007cites this paper
• Disruption of the ubiquitin ligase HERC4 causes defects in spermatozoon maturation and impaired fertility.

  2007cites this paper
• RCC1‐like repeat proteins: A pangenomic, structurally diverse new superfamily of β‐propeller domains

  2007cites this paper
• A Study of Cyfip1 Gene at the l7Rl1 Locus in Mouse Chromosome 7

  2007influential citation
• Mutational pattern and frequency of induced nucleotide changes in mouse ENU mutagenesis

  2007cites this paper
• Angelman and Prader-Willi syndromes in Estonia

  2007cites this paper
• Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

  2007cites this paper
• Atlas of Genetics and Cytogenetics in Oncology and Haematology Microdeletions and Molecular Genetics

  2006cites this paper
• Somatische Mosaike und atypische Deletionen bei Patienten mit Prader-Willi- und Angelman-Syndrom

  2006cites this paper
• Molecular Genetic Findings in Prader-Willi Syndrome

  2006cites this paper
• Segmental Duplications and Genetic Disease

  2006cites this paper
• E3 ubiquitin ligases.

  2005cites this paper
• Requirement of phosphatidylinositol‐4,5‐bisphosphate for HERC1‐mediated guanine nucleotide release from ARF proteins

  2005cites this paper
• The HERC proteins: functional and evolutionary insights

  2005cites this paper
• A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted pws loci do not alter genome-wide mRNA levels.

  2005cites this paper
• The human HERC family of ubiquitin ligases: novel members, genomic organization, expression profiling, and evolutionary aspects.

  2005influential citation
• 2 E 3 ubiquitin ligases

  2005cites this paper
• Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

  2005cites this paper
• The giant protein HERC1 is recruited to aluminum fluoride‐induced actin‐rich surface protrusions in HeLa cells

  2004cites this paper
• Gene dosage and the molecular mechanisms of Pelizaeus-Merzbacher disease

  2004cites this paper
• Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).

  2004cites this paper
• Analysis of segmental duplications and genome assembly in the mouse.

  2004cites this paper
• DNM1DN: a new class of paralogous genomic segments (duplicons) with highly conserved copies on chromosomes Y and 15

  2004cites this paper
• Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.

  2003cites this paper
• Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland

  2003influential citation
• Interaction between HERC1 and M2‐type pyruvate kinase

  2003influential citation
• Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

  2003cites this paper
• Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

  2003cites this paper
• Cloning, functional study and comparative mapping of Luzp2 to mouse Chromosome 7 and human Chromosome 11p13–11p14

  2003cites this paper
• Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.

  2003influential citation
• Mind bomb is a ubiquitin ligase that is essential for efficient activation of Notch signaling by Delta.

  2003cites this paper
• Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

  2002cites this paper
• ATM mutations in Finnish breast cancer patients

  2002cites this paper
• 41 THE MOLECULAR AND CELLULAR GENETICS OF AUTISM

  2002cites this paper
• The Prader-Willi syndrome and the Angelman syndrome.

  2002cites this paper
• Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions.

  2002cites this paper
• A Val 227 Ala polymorphism in the peroxisome proliferator activated receptor α ( PPAR á ) gene is associated with variations in serum lipid levels

  2002cites this paper
• CUL7: A DOC domain-containing cullin selectively binds Skp1⋅Fbx29 to form an SCF-like complex

  2002cites this paper
• A Val227Ala polymorphism in the peroxisome proliferator activated receptor alpha (PPARalpha) gene is associated with variations in serum lipid levels.

  2002cites this paper
• A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

  2002cites this paper
• A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.

  2002cites this paper
• Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

  2002cites this paper
• Membrane-bound progesterone receptors contain a cytochrome b5-like ligand-binding domain

  2002cites this paper
• Nercc1, a mammalian NIMA-family kinase, binds the Ran GTPase and regulates mitotic progression.

  2002cites this paper
• Vascular Genomics of the Human Brain

  2002cites this paper
• Segmental duplications: an 'expanding' role in genomic instability and disease

  2001cites this paper
• Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes.

  2001cites this paper
• Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

  2001cites this paper