Prader-Willi and Angelman syndrome (Homo sapiens)
From WikiPathways
Description
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are diseases that are both caused by a deletion in the same region of chromosome 15, namely 15q11-q13 (exact position chr15:22805313-28390339 (GRCh37) taken from Kirov et al. 2014 and literature cited there). Due to methylation patterns however, different genes are responsible for the two syndromes. This pathway depicts the currently known downstream molecular interactions of several of the genes involved in PWS and/or AS. For this chromosomal region, also duplications are known.
The colours of the pathway sections correspond to the colours of the genes on top. Dashed lines indicate a gap between a component and the downstream pathway. A rectangle is drawn to improve the clarity of the pathway; darker colours indicate that this particular part is derived from research in other animals than humans.
A detailed description of the pathway has been published by Ehrhart et al.. The published version is WP3998-94544.
Proteins on this pathway have targeted assays available via the CPTAC Assay PortalQuality Tags
Ontology Terms
Bibliography
View all... |
- Bekker-Jensen S, Rendtlew Danielsen J, Fugger K, Gromova I, Nerstedt A, Lukas C, Bartek J, Lukas J, Mailand N; ''HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes.''; Nat Cell Biol, 2010 PubMed Europe PMC Scholia
- Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, Krasowski MD, Rick CE, Korpi ER, Mäkelä R, Brilliant MH, Hagiwara N, Ferguson C, Snyder K, Olsen RW; ''Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior.''; Proc Natl Acad Sci U S A, 1997 PubMed Europe PMC Scholia
- Miller NL, Wevrick R, Mellon PL; ''Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.''; Hum Mol Genet, 2009 PubMed Europe PMC Scholia
- Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R; ''Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.''; Hum Mol Genet, 2005 PubMed Europe PMC Scholia
- Neumann LC, Markaki Y, Mladenov E, Hoffmann D, Buiting K, Horsthemke B; ''The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.''; Hum Mol Genet, 2012 PubMed Europe PMC Scholia
- Chumová J, Trögelová L, Kourová H, Volc J, Sulimenko V, Halada P, Ku�era O, Benada O, Kuchařová A, Klebanovych A, Dráber P, Daniel G, Binarová P; ''γ-Tubulin has a conserved intrinsic property of self-polymerization into double stranded filaments and fibrillar networks.''; Biochim Biophys Acta Mol Cell Res, 2018 PubMed Europe PMC Scholia
- Burns CM, Chu H, Rueter SM, Hutchinson LK, Canton H, Sanders-Bush E, Emeson RB; ''Regulation of serotonin-2C receptor G-protein coupling by RNA editing.''; Nature, 1997 PubMed Europe PMC Scholia
- Garfield AS, Davies JR, Burke LK, Furby HV, Wilkinson LS, Heisler LK, Isles AR; ''Increased alternate splicing of Htr2c in a mouse model for Prader-Willi syndrome leads disruption of 5HT2Creceptor mediated appetite.''; Mol Brain, 2016 PubMed Europe PMC Scholia
- Colmers WF, Wevrick R; ''Leptin signaling defects in a mouse model of Prader-Willi syndrome: An orphan genetic obesity syndrome no more?''; Rare Dis, 2013 PubMed Europe PMC Scholia
- Navarro VM, Gottsch ML, Wu M, GarcÃÂÂÂÂÂÂÂÂÂÂÂa-Galiano D, Hobbs SJ, Bosch MA, Pinilla L, Clifton DK, Dearth A, Ronnekleiv OK, Braun RE, Palmiter RD, Tena-Sempere M, Alreja M, Steiner RA; ''Regulation of NKB pathways and their roles in the control of Kiss1 neurons in the arcuate nucleus of the male mouse.''; Endocrinology, 2011 PubMed Europe PMC Scholia
- ''mRNA splicing - major pathway''; Reactome; R-HSA-72163.2, DOI Scholia
- Mercer RE, Michaelson SD, Chee MJ, Atallah TA, Wevrick R, Colmers WF; ''Magel2 is required for leptin-mediated depolarization of POMC neurons in the hypothalamic arcuate nucleus in mice.''; PLoS Genet, 2013 PubMed Europe PMC Scholia
- Abreu AP, Macedo DB, Brito VN, Kaiser UB, Latronico AC; ''A new pathway in the control of the initiation of puberty: the MKRN3 gene.''; J Mol Endocrinol, 2015 PubMed Europe PMC Scholia
- Canton H, Emeson RB, Barker EL, Backstrom JR, Lu JT, Chang MS, Sanders-Bush E; ''Identification, molecular cloning, and distribution of a short variant of the 5-hydroxytryptamine2C receptor produced by alternative splicing.''; Mol Pharmacol, 1996 PubMed Europe PMC Scholia
- Delahanty RJ, Zhang Y, Bichell TJ, Shen W, Verdier K, Macdonald RL, Xu L, Boyd K, Williams J, Kang JQ; ''Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.''; Cell Rep, 2016 PubMed Europe PMC Scholia
- Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK; ''A global view of the OCA2-HERC2 region and pigmentation.''; Hum Genet, 2012 PubMed Europe PMC Scholia
- Schenck A, Bardoni B, Moro A, Bagni C, Mandel JL; ''A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
- Kuroda S, Nakagawa N, Tokunaga C, Tatematsu K, Tanizawa K; ''Mammalian homologue of the Caenorhabditis elegans UNC-76 protein involved in axonal outgrowth is a protein kinase C zeta-interacting protein.''; J Cell Biol, 1999 PubMed Europe PMC Scholia
- ''Mammalian homologue of the Caenorhabditis elegans UNC-76 protein involved in axonal outgrowth is a protein kinase C zeta-interacting protein.''; J Cell Biol, 1999
- Burnett LC, LeDuc CA, Sulsona CR, Paull D, et al; ''Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi Syndrome''; J Clin Invest, 2017 PubMed Europe PMC Scholia
- Gamell C, Gulati T, Levav-Cohen Y, Young RJ, Do H, Pilling P, Takano E, Watkins N, Fox SB, Russell P, Ginsberg D, Monahan BJ, Wright G, Dobrovic A, Haupt S, Solomon B, Haupt Y; ''Reduced abundance of the E3 ubiquitin ligase E6AP contributes to decreased expression of the INK4/ARF locus in non-small cell lung cancer.''; Sci Signal, 2017 PubMed Europe PMC Scholia
- Brange J, Langkjoer L; ''Insulin structure and stability.''; Pharm Biotechnol, 1993 PubMed Europe PMC Scholia
- Ehrhart F, Janssen KJM, Coort SL, Evelo CT, Curfs LMG2; ''Prader-Willi Syndrome and Angelman Syndrome: Visualisation of the molecular pathways for two chromosomal disorders''; World J Biol Psychiatry, 2018 PubMed Europe PMC Scholia
- Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R; ''Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth''; Hum Mol Genet, 2005 PubMed Europe PMC Scholia
- Maillard J, Park S, Croizier S, Vanacker C, Cook JH, Prevot V, Tauber M, Bouret SG; ''Loss of Magel2 impairs the development of hypothalamic Anorexigenic circuits.''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
History
View all... |
External references
DataNodes
View all... |
Annotated Interactions
No annotated interactions