A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: Expression, imprinting, and mapping of the human and mouse orthologues

BMC Genetics

Volumn 2, Issue , 2001, Pages

  Chibuk, Thea K ^a   Bischof, Jocelyn M ^a   Wevrick, Rachel ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; NECDIN; UNCLASSIFIED DRUG; MESSENGER RNA; NDNL2 PROTEIN, HUMAN; NDNL2 PROTEIN, MOUSE; NERVE PROTEIN; NUCLEAR PROTEIN; PROTEIN; SIGNAL PEPTIDE;

ALLELE; ANIMAL CELL; ARTICLE; AUTISM; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME 7; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; GENE CLUSTER; GENE EXPRESSION; GENE IDENTIFICATION; GENE MAPPING; GENETIC SUSCEPTIBILITY; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; MOUSE; MULTIGENE FAMILY; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PATHOGENESIS; PRADER WILLI SYNDROME; SEQUENCE HOMOLOGY; SYNTENY; AMINO ACID SEQUENCE; ANIMAL; BIOSYNTHESIS; CHROMOSOME MAP; GENETIC PREDISPOSITION; GENETIC TRANSCRIPTION; GENETICS; MOLECULAR GENETICS; PROTEIN SYNTHESIS; TISSUE DISTRIBUTION;

MURINAE;

AMINO ACID SEQUENCE; ANIMALS; AUTISTIC DISORDER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; GENETIC PREDISPOSITION TO DISEASE; GENOMIC IMPRINTING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PROTEIN BIOSYNTHESIS; PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SYNTENY; TISSUE DISTRIBUTION; TRANSCRIPTION, GENETIC;

EID: 18744405462     PISSN: 14712156     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2156-2-22     Document Type: Article

References (28)

1. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD: Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am. J. Hum. Genet 1999, 65:370-386
2. Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter DH: Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum. Mol. Genet 1999, 8:1025-1037
3. Nicholls RD: The impact of genomic imprinting for neurobehavioral and developmental disorders. J. Clin. Invest 2000, 105:413-418
4. Maddox LO, Menold MM, Bass MP, Rogala AR, Pericak-Vance MA, Vance JM, Gilbert JR: Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig. Genomics 1999, 62:325-331
5. Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, Maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, DeLong GR, Pericak-Vance MA: Genetic studies in autistic disorder and chromosome 15. Neurogenetics 2000, 2:219-226
6. Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-h, Benton CS, Rommens JM, Beaudet AL: De novo truncation mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet 1997, 15:74-77
7. Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet 1997, 15:70-73
8. MacDonald HR, Wevrick R: The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum. Mol. Genet 1997, 6:1873-1878
9. Cavaille J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Huttenhofer A: From the cover: identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Proc. Natl. Acad. Sci. U S A 2000, 97:14311-14316
10. de los Santos T, Schweizer J, Rees CA, Francke U: Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brain. Am. J. Hum. Genet 2000, 67:1067-1082
11. Boccaccio I, Glatt-Deeley H, Watrin F, Roeckel N, Lalande M, Muscatelli F: The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum. Mol. Genet 1999, 8:2497-2505
12. Lee S, Kozlov S, Hernandez L, Chamberlain SJ, Brannan CI, Stewart CL, Wevrick R: Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype. Hum. Mol. Genet 2000, 9:1813-1819
13. Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei MG, Malzac P, Roeckel N, Taviaux S, Lefranc JL, Cau P, Berta P, Lalande M, Muscatelli F: The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nature Genet 1997, 17:357-361
14. Sutcliffe JS, Han M, Christian SL, Ledbetter DH: Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome. Lancet 1997, 350:1520-1521
15. Gerard M, Hernandez L, Wevrick R, Stewart C: Disruption of the mouse necdin gene results in early postnatal lethality: a model for neonatal distress in Prader-Willi syndrome. Nature Genet 1999, 23:199-202
16. Muscatelli F, Abrous DN, Massacrier A, Boccaccio I, Moal ML, Cau P, Cremer H: Disruption of the mouse necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum. Mol. Genet 2000, 9:3101-3110
17. Blanco G, Irving NG, Brown SD, Miller CC, McLoughlin DM: Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosinebinding domain proteins that interact with the Alzheimer's disease amyloid precursor protein. Mamm. Genome 1998, 9:473-475
18. Yoshikawa K: Cell cycle regulators in neural stem cells and postmitotic neurons. Neurosci. Res 2000, 37:1-14
19. Masuda Y, Sasaki A, Shibuya H, Ueno N, Ikeda K, Watanabe K: Dlxin-1, a novel protein that binds Dlx5 and regulates its transcriptional function. J. Biol. Chem 2000, 17:5331-5338
20. Lee S, Wevrick R: Identification of novel imprinted transcripts in the Prader-Willi/Angelman syndrome deletion region: further evidence for regional imprinting control. Am. J. Hum. Genet 2000, 66:848-858
21. Meguro M, Mitsuya K, Nomura N, Kohda M, Kashiwagi A, Nishigaki R, Yoshioka H, Nakao M, Oishi M, Oshimura M: Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: an imprinted direct repeat cluster resembling small nucleolar RNA genes. Hum. Mol. Genet 2001, 10:383-394
22. Bielinska B, Blaydes SM, Buiting K, Yang T, Krajewska-Walasek M, Horsthemke B, Brannan CI: De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch. Nat Genet 2000, 25:74-78
23. Chomez P, De Backer O, Bertrand M, De Plaen E, Boon T, Lucas S: An overview of the MAGE gene family with the identification of all human members of the family. Cancer Res 2001, 61:5544-5551
24. Jordan BW, Dinev D, LeMellay V, Troppmair J, Gotz R, Wixler L, Sendtner M, Ludwig S, Rapp UR: NRAGE is an inducible IAP-interacting protein that augments cell death. J. Biol. Chem 2001, 6:1-6
25. Salehi AH, Roux PP, Kubu CJ, Zeindler C, Bhakar A, Tannis LL, Verdi JM, Barker PA: NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin receptor and facilitates nerve growth factor-dependent apoptosis. Neuron 2000, 27:279-288
26. Wandstrat AE, Leana-Cox J, Jenkins L, Schwartz S: Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. Am J Hum Genet 1998, 62:925-936
27. Wandstrat AE, Schwartz S: Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation. Chromosoma 2000, 109:498-505
28. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH: Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Am. J. Med. Genet 1998, 79:82-89