Physiological functions of imprinted genes

Journal of Cellular Physiology

Volumn 192, Issue 3, 2002, Pages 245-258

  Tycko, Benjamin ^a   Morison, Ian M ^b  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELISM; BRAIN FUNCTION; DATA BASE; DISEASE SEVERITY; EMBRYOLOGY; GAMETOGENESIS; GENETIC ANALYSIS; GENOME IMPRINTING; GROWTH REGULATION; HUMAN; MAMMAL; MOUSE; NONHUMAN; POSTNATAL DEVELOPMENT; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; REVIEW;

ALLELES; ANIMALS; CHROMOSOMES, HUMAN; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MICE;

MAMMALIA;

EID: 0036323502     PISSN: 00219541     EISSN: None     Source Type: Journal    
DOI: 10.1002/jcp.10129     Document Type: Review

References (222)

1. Expression of necdin, an embryonal carcinoma-derived nuclear protein, in developing mouse brain
2. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
3. The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts
4. Gamete-specific methylation correlates with imprinting of the murine Xist gene
5. Role of insulin-like growth factors in embryonic and post-natal growth
6. The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus
7. Parental imprinting of the mouse H19 gene
8. Appendix: Imprinted genes and regions in mouse and human
9. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
10. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
11. Beyond dystrophin: Current progress in the muscular dystrophies
12. A role for the Ras signalling pathway in synaptic transmission and long-term memory
13. The product of the H19 gene may function as an RNA
14. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
15. Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome
16. Expression and parental imprinting of the H19 gene in human rhabdomyosarcoma
17. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
18. Oppositely imprinted genesp57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome
19. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome
20. Differential activity of maternally and paternally derived chromosome regions in mice
21. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression
22. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
23. The callipyge mutation enhances the expression of coregulated imprinted genes in cis without affecting their imprinting status
24. Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, anti-PEG11, and MEG8
25. A second signal supplied by insulin-like growth factor II in oncogene-induced tumorigenesis
26. Chromosome 11p15.5 regional imprinting: Comparative analysis of KIP2 and H19 in human tissues and Wilms' tumors
27. Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: Inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting
28. 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
29. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects
30. Parental imprinting of the mouse insulin-like growth factor II gene
31. Tissue- and developmental stage-specific imprinting of the mouse proinsulin gene, Ins2
32. Peg3/Pw1 promotes p53-mediated apoptosis by inducing Bax translocation from cytosol to mitochondria
33. Deletion of a silencer element disrupts H19 imprinting independently of a DNA methylation epigenetic switch
34. Phenotypic alterations in insulin-deficient mutant mice
35. Imprinting at the mouse Ins2 locus: Evidence for cis- and trans-allelic interactions
36. DNA demethylation reactivates a subset of imprinted genes in uniparental mouse embryonic fibroblasts
37. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome
38. Sequence and functional comparison in the Beckwith-Wiedemann region: Implications for a novel imprinting centre and extended imprinting
39. Epsilon-Sarcoglycan, a broadly expressed homologue of the gene mutated in limb-girdle muscular dystrophy 2D
40. The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2
41. Genomic imprinting in ruminants: Allele-specific gene expression in parthenogenetic sheep
42. Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: An introduction
43. Structural basis for discrimination of 3-phosphoinositides by pleckstrin homology domains
44. Expression of two different products of CDC25Mm, a mammalian Ras activator, during development of mouse brain
45. To fear or not to fear: What was the question? A potential role for Ras-GRF in memory
46. ESX1L, a novel X chromosome-linked human homeobox gene expressed in the placenta and testis
47. A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: Tissue-specific expression, chromosomal location, and parental imprinting
48. Isolated placental overgrowth in mice lacking the imprinted gene Ip1
49. High frequency of inactivation of the imprinted H19 gene in "sporadic" hepatoblastoma
50. Adipocyte differentiation is modulated by secreted delta-like (dlk) variants and requires the expression of membrane-associated dlk
51. Disruption of the mouse necdin gene results in early post-natal lethality
52. Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting
53. Functional imprinting and epigenetic modification of the human SNRPN gene
54. Imprinting of mouse Kvlqt1 is developmentally regulated
55. An imprinted, mammalian bicistronic transcript encodes two independent proteins
56. Expression of the SmN splicing protein is developmentally regulated in the rodent brain but not in the rodent heart
57. Essential role of Mash-2 in extraembryonic development
58. Genomic imprinting of Mash2, a mouse gene required for trophoblast development
59. Genomic imprinting and the strange case of the insulin-like growth factor II receptor
60. Tumour-suppressor activity of H19 RNA
61. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
62. p57(KIP2) is not mutated in hepatoblastoma but shows increased transcriptional activity in a comparative analysis of the three imprinted genes p57(KIP2), IGF2, and H19
63. Genomic imprinting of p57KIP2, a cyclin-dependent kinase inhibitor, in mouse
64. Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors
65. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome
66. New p57KIP2 mutations in Beckwith-Wiedemann syndrome
67. Arrest of cell growth by necdin, a nuclear protein expressed in postmitotic neurons
68. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
69. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
70. The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith-Wiedemann syndrome
71. Paternal monoallelic expression of PEG3 in the human placenta
72. Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome
73. A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18
74. Role of the H19 gene in Syrian hamster embryo cell tumorigenicity
75. Imprinted gene in post-natal growth role
76. Mammalian X chromosome inactivation
77. A repertoire of differentially expressed transcription factors that offers insight into mechanisms of human cytotrophoblast differentiation
78. The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
79. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
80. Strain-dependent developmental relaxation of imprinting of an endogenous mouse gene, Kvlqt1
81. Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
82. Molecular cloning of a novel mRNA (neuronatin) that is highly expressed in neonatal mammalian brain
83. Neuronatin mRNA: Alternatively spliced forms of a novel brain-specific mammalian developmental gene
84. Neuronatin mRNA in PC12 cells: Downregulation by nerve growth factor
85. Peg5/Neuronatin is an imprinted gene located on sub-distal chromosome 2 in the mouse
86. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans
87. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization
88. Imprinting and X chromosome counting mechanisms determine Xist expression in early mouse development
89. Genomic imprinting, maternal care, and brain evolution
90. Genetic and functional analysis of neuronatin in mice with maternal or paternal duplication of distal Chr 2
91. M6P/IGF2R imprinting evolution in mammals
92. The human homolog of a mouse-imprinted gene, Peg3, maps to a zinc finger gene-rich region of human chromosome 19q13.4
93. UBE3A/E6-AP mutations cause Angelman syndrome
94. Human PEG1/MEST, an imprinted gene on chromosome 7
95. Trafficking of lysosomal enzymes
96. Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein
97. Imprints of disease at GNAS1
98. Parental imprinting and Angelman syndrome
99. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation
100. Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality
101. The imprinted gene Peg3 is not essential for tumor necrosis factor alpha signaling
102. Disruption of imprinted X inactivation by parent-of-origin effects at Tsix
103. Genomic imprinting of a human apoptosis gene homologue, TSSC3
104. A 450 kb transgene displays properties of the mammalian X-inactivation center
105. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements
106. Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome
107. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
108. Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice
109. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
110. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region
111. An enhancer deletion affects both H19 and Igf2 expression
112. Disruption of imprinting caused by deletion of the H19 gene region in mice
113. Esx1 is an X-chromosome-imprinted regulator of placental development and fetal growth
114. Role for DNA methylation in genomic imprinting
115. Esx1, a novel X chromosome-linked homeobox gene expressed in mouse extraembryonic tissues and male germ cells
116. The H19 transcript is associated with polysomes and may regulate IGF2 expression in trans
117. Regulation of maternal behavior and offspring growth by paternally expressed Peg3
118. Organization and parent-of-origin-specific methylation of imprinted Peg3 gene on mouse proximal chromosome 7
119. Gene expression in Wilms' tumors mimics the earliest committed stage in the metanephric mesenchymal - Epithelial transition
120. H19 and insulin-like growth factor-II gene expression in adrenal tumors and cultured adrenal cells
121. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
122. Normal lymphocyte development but delayed humoral immune response in CD81-null mice
123. The tetraspanin superfamily: Molecular facilitators
124. Beckwith-Wiedemann syndrome: Imprinting in clusters revisited
125. Mutation analysis of UBE3A in Angelman syndrome patients
126. Xist-deficient mice are defective in dosage compensation but not spermatogenesis
127. A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells
128. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene
129. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15
130. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
131. Completion of mouse embryogenesis requires both the maternal and paternal genomes
132. Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: An imprinted direct repeat cluster resembling small nucleolar RNA genes
133. Normal development but differentially altered proliferative responses of lymphocytes in mice lacking CD81
134. Genomic imprinting in mammalian development: A Parental tug-of-war
135. Insulin-like growth factor 2 and overgrowth: Molecular biology and clinical implications
136. Somatic overgrowth associated with overexpression of insulin-like growth factor II
137. Epigenetic lesions at the H19 locus in Wilms' tumour patients
138. Imprinting of PEG3, the human homologue of a mouse gene involved in nurturing behavior
139. Incriminating gene suspects, Prader-Willi style
140. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
141. Evidence that random and imprinted Xist expression is controlled by preemptive methylation
142. Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
143. Overlapping patterns of IGF2 and H19 expression during human development: Biallelic IGF2 expression correlates with a lack of H19 expression
144. dlk inhibits stem cell factor-induced colony formation of murine hematopoietic progenitors: Hes-1-independent effect
145. Comparative genome analysis of the mouse imprinted gene impact and its nonimprinted human homolog IMPACT: Toward the structural basis for species-specific imprinting
146. Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms' tumors
147. Allelic expression of IGF2 in marsupials and birds
148. Is the Ras-MAPK signalling pathway necessary for long-term memory formation?
149. Cyclin-dependent kinase inhibitor p57KIP2 in soft tissue sarcomas and Wilms' tumors
150. Allelic IGF2R repression does not correlate with expression of antisense RNA in human extraembryonic tissues
151. p57K1P2 is expressed in Wilms' tumor with LOH of 11p15.5
152. Guanine nucleotide exchange factors: Activators of Ras superfamily proteins
153. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
154. The structure and expression of a novel gene activated in early mouse embryogenesis
155. Sm-like proteins wRING the neck of mRNA
156. Natural selection and the function of genome imprinting: Beyond the silenced minority
157. Absence of imprinting in U2AFBPL, a human homologue of the imprinted mouse gene U2afbp-rs
158. A direct repeat sequence at the Rasgrf1 locus and imprinted expression
159. Requirement for Xist in X chromosome inactivation
160. Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilonsarcoglycan are maternally imprinted genes: Identification by a subtractive screen of novel uniparental fibroblast lines
161. Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS-M
162. Metastasizing mammary carcinomas in H19 enhancers-Igf2 transgenic mice
163. The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis
164. Relaxation of imprinted genes in human cancer
165. Pw1, a novel zinc finger gene implicated in the myogenic and neuronal lineages
166. Peg3/Pw1 is an imprinted gene involved in the TNF-NFκB signal transduction pathway
167. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses
168. KCNQ potassium channels: Physiology, pathophysiology, and pharmacology
169. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
170. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
171. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
172. Regulation of imprinted X-chromosome inactivation in mice by Tsix
173. Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations
174. The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53
175. The Dlk1 and Gtl2 genes are linked and reciprocally imprinted
176. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
177. Imprinting
178. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour
179. Epsilon-sarcoglycan replaces alpha-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex
180. Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome
181. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis
182. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
183. Neuronally-expressed necdin gene: An imprinted candidate gene in Prader-Willi syndrome
184. Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
185. Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12
186. Mice lacking a CDK inhibitor, p57Kip2, exhibit skeletal abnormalities and growth retardation
187. Mash2 acts cell autonomously in mouse spongiotrophoblast development
188. Parental origin-specific expression of Mash2 is established at the time of implantation with its imprinting mechanism highly resistant to genome-wide demethylation
189. Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms' tumor
190. Human p57(KIP2) defines a new imprinted domain on chromosome 11p but is not a tumour suppressor gene in Wilms' tumour
191. Necdin, a postmitotic neuron-specific growth suppressor, interacts with viral transforming proteins and cellular transcription factor E2F1
192. FA1 immunoreactivity in endocrine tumours and during development of the human fetal pancreas; negative correlation with glucagon expression
193. Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome
194. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
195. Expression of p57(KIP2) potently blocks the growth of human astrocytomas and induces cell senescence
196. Structure and expression of the mouse necdin gene. Identification of a postmitotic neuron-restrictive core promoter
197. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
198. Linkage analysis in familial Angelman syndrome
199. Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene
200. The molecular basis of long QT syndrome and prospects for therapy
201. The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region
202. Short- and long-range complications in offspring of diabetic mothers
203. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
204. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
205. An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene
206. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
207. The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome
208. Segment-specific expression of the neuronatin gene during early hindbrain development
209. Localisation of the imprinted gene neuronatin, Nnat, confirms and refines the location of a second imprinting region on mouse chromosome 2
210. Imprinted expression of the Igf2r gene depends on an intronic CpG island
211. Non-imprinted Igf2r expression decreases growth and rescues the Tme mutation in mice
212. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation
213. Functional polymorphism in the parental imprinting of the human IGF2R gene
214. Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development
215. A mouse model for Prader-Willi syndrome imprinting-centre mutations
216. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knock-out mice is due to tissue-specific imprinting of the Gsalpha gene
217. Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism
218. Increased insulin sensitivity in Gsalpha knockout mice
219. Monoallelic expression of the human H19 gene
220. Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome
221. Mutations in the gene encoding varepsilonsarcoglycan cause myoclonus-dystonia syndrome
222. Methylation of the mouse Xist gene in sperm and eggs correlates with imprinted Xist expression and paternal X-inactivation