The role of genomic imprinting in human developmental disorders: Lessons from Prader-Willi syndrome

Clinical Genetics

Volumn 59, Issue 3, 2001, Pages 156-164

  Hanel, Ml ^a   Wevrick, R ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

Genomic imprinting; Prader; Willi syndrome

Indexed keywords

COMPLEMENTARY RNA; GROWTH FACTOR; RNA; UBIQUITIN PROTEIN LIGASE;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMATIN; CHROMOSOME 15Q; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; GENE CONTROL; GENE EXPRESSION; GENETIC DISORDER; GENOME; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HEREDITY; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RNA HYBRIDIZATION; TISSUE SPECIFICITY; UNIPARENTAL DISOMY;

ALLELES; ANGELMAN SYNDROME; CHROMOSOMES, HUMAN, PAIR 15; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOMIC IMPRINTING; HUMANS; MALE; MOSAICISM; PRADER-WILLI SYNDROME;

ANIMALIA;

EID: 0035098226     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590303.x     Document Type: Article

References (80)

1. The sins of the fathers and mothers: Genomic imprinting in mammalian development
2. Genomic imprinting in mammals: An interplay between chromatin and DNA methylation?
3. Identification of novel imprinted transcripts in the Prader-Willi/Angelman syndrome deletion region: Further evidence for regional imprinting control
4. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
5. A catalogue of imprinted genes and parent-of-origin effects in humans and animals
6. Genomic imprinting: Implications for human disease
7. Cancer epigenetics comes of age
8. Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: The "Likon" concept)
9. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
10. Uniparental disomy 15 resulting from "correction" of an initial trisomy 15
11. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
12. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
13. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23
14. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
15. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
16. The analysis of parental origin of alleles may detect susceptibility loci for complex disorders
17. Genetic imprinting map
18. Zacl (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: Identification by a subtractive screen of novel uniparental fibroblast lines
19. Identification of an imprinted U2af binding protein related sequence on mouse chromosome 11 using the RLGS method
20. The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus
21. Parental genomic imprinting of the human IGF2 gene
22. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion
23. Gametic imprinting in mammals
24. Structure and function of the human chromosome 15 imprinting center
25. Rubinstein-Taybi syndrome caused by mutations in the transcriptional coactivator CBP
26. Prader-Willi syndrome: Consensus diagnostic criteria
27. Imprinting mutations on human chromosome 15
28. Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13
29. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
30. Parental origin of chromosome 15 deletion in Prader-Willi syndrome
31. The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis
32. Progress in the autosomal segmental aneusomy syndromes (SASs): Single or multi-locus disorders?
33. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
34. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
35. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
36. Autistic symptoms among children and young adults with isodicentric chromosome 15
37. Angelman syndrome
38. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
39. Angelman syndrome: How many genes to remain silent
40. UBE3A/E6-AP mutations cause Angelman syndrome
41. De novo truncation mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
42. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
43. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
44. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
45. Gene index analysis of the human genome estimates approximately 120000 genes
46. Estimate of human gene number provided by genome-wide analysis using Tetraodon nigroviridis DNA sequence
47. Analysis of expressed sequence tags indicates 35000 human genes
48. An imprinted, mammalian bicistronic transcript encodes two independent proteins
49. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
50. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
51. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
52. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
53. Neuronally-expressed necdin gene: An imprinted candidate gene in Prader-Willi syndrome
54. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
55. Expression and imprinting of MAGEL2 suggest a role in Prader-Willi Syndrome and the homologous murine imprinting phenotype
56. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region
57. 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
58. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
59. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
60. An imprinted mouse transcript homologous to the human Imprinted in Prader-Willi syndrome (IPW) gene
61. Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer
62. A model system to study genomic imprinting of human genes
63. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
64. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
65. 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
66. Identification of a testi-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
67. A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells
68. Cellular and subcellular localization of necdin in fetal and adult mouse brain
69. Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis
70. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
71. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
72. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
73. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
74. Beckwith-Wiedemann syndrome: Imprinting in clusters revisited
75. The two-domain hypothesis in Beckwith-Wiedemann syndrome
76. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression
77. A mouse model for Prader-Willi syndrome imprinting-centre mutations
78. Disruption of the mouse needin gene results in early postnatal lethality: A model for neonatal distress in Prader-Willi syndrome
79. Needin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome