Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

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Autor/in:
Erscheinungsjahr:
2012
Medientyp:
Text
Schlagworte:
  • Adult
  • Humans
  • Male
  • Female
  • Middle Aged
  • Adolescent
  • Young Adult
  • Child
  • Child, Preschool
  • Genotype
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Mutation
  • Phenotype
  • Gene Expression Regulation, Neoplastic
  • Polymorphism, Single Nucleotide
  • Genetic Association Studies
  • *Genes, Neurofibromatosis 1
  • Neurofibromatosis 1/*genetics
  • Cyclin-Dependent Kinase Inhibitor p15/genetics
  • Cyclin-Dependent Kinase Inhibitor p16/genetics
  • Neurofibroma, Plexiform/*genetics
  • Polycomb Repressive Complex 2/genetics
  • RNA, Long Untranslated/*genetics
  • Adult
  • Humans
  • Male
  • Female
  • Middle Aged
  • Adolescent
  • Young Adult
  • Child
  • Child, Preschool
  • Genotype
  • Gene Deletion
  • Genetic Predisposition to Disease
  • Mutation
  • Phenotype
  • Gene Expression Regulation, Neoplastic
  • Polymorphism, Single Nucleotide
  • Genetic Association Studies
  • *Genes, Neurofibromatosis 1
  • Neurofibromatosis 1/*genetics
  • Cyclin-Dependent Kinase Inhibitor p15/genetics
  • Cyclin-Dependent Kinase Inhibitor p16/genetics
  • Neurofibroma, Plexiform/*genetics
  • Polycomb Repressive Complex 2/genetics
  • RNA, Long Untranslated/*genetics
Beschreibung:
  • Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas. Considerable inter- and intra-familial variation in expressivity of the disease has been observed which is influenced by genetic modifiers unrelated to the constitutional NF1 mutation. The number of plexiform neurofibromas (PNF) in NF1 patients is a highly heritable genetic trait. Recently, SNP rs2151280 located within the non-coding RNA gene ANRIL at 9p21.3, was identified as being strongly associated with PNF number in a family-based association study. The T-allele of rs2151280, which correlates with reduced ANRIL expression, appears to be associated with higher PNF number. ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing.
  • Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas. Considerable inter- and intra-familial variation in expressivity of the disease has been observed which is influenced by genetic modifiers unrelated to the constitutional NF1 mutation. The number of plexiform neurofibromas (PNF) in NF1 patients is a highly heritable genetic trait. Recently, SNP rs2151280 located within the non-coding RNA gene ANRIL at 9p21.3, was identified as being strongly associated with PNF number in a family-based association study. The T-allele of rs2151280, which correlates with reduced ANRIL expression, appears to be associated with higher PNF number. ANRIL directly binds to the SUZ12 protein, an essential component of polycomb repressive complex 2, and is required for SUZ12 occupancy of the CDKN2A/CDKN2B tumour suppressor genes as well as for their epigenetic silencing.
Lizenz:
  • info:eu-repo/semantics/openAccess
Quellsystem:
Forschungsinformationssystem des UKE

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oai:pure.atira.dk:publications/a1c0f5c6-4b79-496e-bff0-6ca8a8445a43