Imprinted genes and regulation of gene expression by epigenetic inheritance

Current Opinion in Cell Biology

Volumn 8, Issue 3, 1996, Pages 348-353

  John, Rosalind M ^a   Surani, M Azim ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; DNA; RNA;

CHROMATIN STRUCTURE; DNA METHYLATION; GENE EXPRESSION REGULATION; GENE MAPPING; GENOME IMPRINTING; HUMAN; MOUSE; NONHUMAN; PRIORITY JOURNAL; REVIEW;

EID: 0030008636     PISSN: 09550674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0955-0674(96)80008-1     Document Type: Article

References (62)

1. Surani MA: Genomic imprinting: control of gene expression by epigenetic inheritance. Curr Opin Cell Biol 1994, 6:390-395.
2. Villar AJ, Pedersen RA: Parental imprinting of the Mas • protooncogene in mouse. Nat Genet 1994, 8:373-379. The mas oncogene, which encodes a mitogenic G-protein-coupled cell-surface receptor originally identified through its tumorigenic potential, was examined for imprinting because of its proximity to the imprinted lgf2r gene on proximal mouse chromosome 17, and is maternally suppressed.
3. KIP2 was examined for imprinting because of its location on chromosome 11p15.5 where several imprinted genes are found that are associated with BWS.
4. Guillemot F, Caspary T, Tilghman SM, Copeland NG, Gilbert DJ, • Jenkins NA, Anderson DJ, Joyner AL, Rossant J, Nagy A: Genomic imprinting of Mash2, a mouse gene required for trophoblast development Nat Genet 1995, 9:235-242. Mash2, which encodes a basic helix-loop-helix transcription factor required in the development of trophoblast progenitors, is shown to be genomically imprinted in a gene-knockout experiment. Maternal inheritance of the disrupted Mash2 gene was embryonic lethal whereas paternal inheritance produced normal progeny, indicating that the paternal allele is not expressed.
5. Hayashizaki Y, Shibata HSH, Sugino HYO, Sasaki N, Hirose K, Imoto H, Okuizumi H, Muramatsu MHK, Shiroishi T, Moriwaki K et al.: Identification of an imprinted U2af binding protein related sequence on mouse chromosome II using the RLGS method. Nat Genet 1994, 6:33-40.
6. Kaneko-Ishino T, Kuroiwa Y, Miyoshi N, Kohda T, Suzuki •• R, Yokoyama M, Viville S, Barton SC, Ishino F, Surani MA: Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nat Genet 1995, 11:52-59. cDNA subtraction for differentially expressed genes in parthenogenomes and normal embryos identifies two novel imprinted genes, Peg1 and Peg3.
7. Cattanach BM, Barr J, Jones J: Use of chromosome rearrangements for investigations into imprinting in the mouse. In Genomic Imprinting: Causes and consequences. Edited by Ohlsson R, Hall K, Ritzen M. Cambridge: Cambridge University Press; 1995:327-341.
8. Ledbetter DH, Engel E: Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995, 4:1757-1764.
9. Bartolomei MS, Zemei S, Tilghman SM: Parental imprinting of the mouse H19 gene. Nature 1991, 351:153-155.
10. DeChiara TM, Robertson EJ, Efstratiadis A: Parental imprinting of the mouse insulin-like growth factor II gene. Cell 1991, 64:849-859.
11. Giddings SJ, King CD, Harman KW, Flood JF, Carnaghi LR: Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting. Nat Genet 1994, 6:310-313.
12. Zhang Y, Tycko B: Monoallelic expression of the human H19 gene. Nat Genet 1992, 1:40-44.
13. Giannoukakis N, Deal C, Paquette J, Goodyer CG, Polychronakos C: Parental genomic imprinting of the human IGF2 gene. Nat Genet 1993, 4:98-101.
14. Hoovers JMN, Kalikin LM, Johnson LA, Alders M, Redeker •• B, Law DJ, Bliek J, Steenman M, Benedict M, Wiegant J et al.: Multiple genetic loci within 11p15 defined by Beckwith-Wiedermann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci USA 1995, 92:12456-12460. Multiple genetic loci on chromosome 11p15, as determined by analysis of translocation breakpoints, define BWS and tumour suppression. The results are suggestive of long-range cis-acting effects, because translocation break- points were, surprisingly, found to map to two different regions; five break-points were within 500 kb of the imprinted genes IGF2 and H19 and three were over 4 Mb away from these genes.
15. Leff SE, Brannan CI, Reed ML, Ozcelik T, Francke U, Copeland NG, Jenkins NA: Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet 1992, 2:259-264.
16. Nicholls RD: New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994, 54:733-740.
17. Wevrick R, Kerns JA, Francke U: Identification of a novel paternally expressed gene In the Prader-Willi syndrome region. Hum Mol Genet 1994, 3:1877-1882.
18. Efstratiadis A: Parental imprinting of autosomal mammalian genes. Curr Opin Genet Dev 1994, 4:265-280.
19. Barlow DP, Stoger R, Herrmann BG, Saito K, Schweifer N: The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature 1991, 349:84-87.
20. Buiting K, Saitoh S, Gross S, Bittrich B, Schwartz S, Nicholls RD, •• Horsthemke B: Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 1995, 9:395-400. Evidence that, at some loci, imprinting is controlled by an imprinting centre Deletions of 40-50 kb upstream of SNRPN unexpectedly affect DNA methylation and gene expression over 2-3 Mb.
21. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen Kaesbach G, Anvret M, Horsthemke B: Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994, 54:741-747.
22. Leighton PA, Ingram RS, Eggenschwiler J, Efstratiadis A, •• Tilghman SM: Disruption of imprinting caused by deletion of the H19 gene region In mice. Nature 1995, 375:34-39. Deletion of the mouse H19 gene and of 10 kb of upstream sequence, when inherited maternally, results in bi-allelic lgf2 and Ins2 expression. Hence the expression of H19, lgf2 and Ins2 is linked. Intriguingly, Mash2, which lies less than 230 kb away from the deleted gene sequence, is unaffected.
23. Leighton PA, Saam JR, Ingram RS, Stewart CL, Tilghman SM: An • enhancer deletion affects both H19 and lgf2 expression. Genes Dev 1995, 9:2079-2089. Maternally inherited deletions of the enhancer region downstream of H19 result in the tissue-specific loss of H19 expression, whereas paternally inherited deletions led to the tissue-specific loss of lgf2 expression.
24. Koide T, Ainscough J, Wijgerde M, Surani MA: Comparative analysis of lgf-2/H19 imprinted domain: identification of a highly conserved intergenic DNase I hypersensitive region. Genomics 1994, 24:1-8.
25. Bartolomei MS, Webber AL, Brunkow ME, Tilghman SM: Epigenetic mechanisms underlying the imprinting of the mouse H19 gene. Genes Dev 1993, 7:1663-1673.
26. Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ: Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 1993, 2:2001-2005.
27. Buiting K, Dittrich B, Robinson WP, Guitart M, Abelióvich D, Lerer I, Horsthemke B: Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications. Hum Mol Genet 1994, 3:893-895.
28. Stoger R, Kubicka P, Liu CG, Kafri T, Razin A, Cedar H, Barlow DP: Maternal-specific methylation of the imprinted mouse lgf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 1993, 73:61-71.
29. Chaillet JR, Vogt TF, Beier DR, Leder P: Parental-specific methylation of an imprinted transgene is established during gametogenesis and progressively changes during embryogenesis. Cell 1991, 66:77-83.
30. Chaillet JR, Bader DS, Leder P: Regulation of genomic • imprinting by gametic and embryonic processes. Genes Dev 1995, 9:1177-1187. Deletion constructs of the RSVlgmyc transgenes show that a 206 bp sequence is the maximum size of the cis-acting sequence required to establish and/or maintain the parental imprinting. This transgene not imprinted in all mouse strains.
31. Pfeifer K, Tilghman SM: Allele-specific gene expression in mammals: the curious case of the imprinted RNAs. Genes Dev 1994, 8:1867-1874.
32. Brockdorff N, Ashworth A, Kay GF, McCabe VM, Norris DP, Cooper PJ, Swift S, Rastan S: The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus. Cell 1992, 71:515-526.
33. Brown CJ, Hendrich BD, Rupert JL, Lafreniere RG, Xing Y, Lawrence J, Willard HF: The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell 1992, 71:527-542.
34. Sasaki H, Ferguson-Smith AC, Shum ASW, Barton SC, • Surani MA: Temporal and spatial regulation of H19 imprinting in normal and uniparental mouse embryos. Development 1995, 121:4195-4202. H19 RNA is maternally expressed in 6.5 days postcoitum embryos, and only expressed in parthenogenetic, but not androgenetic, embryos. Variable expression seen in cultured embryos indicates that imprinting of H19 might be unstable. H19 RNA has a cytoplasmic localization.
35. Neumann B, Kubicka P, Barlow DP: Characteristics of imprinted • genes. Nat Genet 1995, 9:12-13. CG-rich regions of 200 to 1500 bp with a balanced CG:GC ratio occur in all imprinted genes studied, and there is differential methylation among parental alleles.
36. Szabo PE, Mann JR: Blallelic expression of imprinted genes in • the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting. Genes Dev 1995, 9:1857-1868. lgf-2, Snrpn, H19 and lgf2r expression is bi-allelic in the germline.
37. Szabo PE, Mann JR: Allele-specific expression and total • expression levels of imprinted genes during early mouse development: Implications for imprinting mechanisms. Genes Dev 1995, 9:3097-3108. The Snrpn maternal allele is silenced from the time at which the embryonic genome is active (i.e. in the four-cell stage ova); the lgf2 maternal allele is silenced from the blastocyst stage; lgf-2r is expressed from both alleles until later in post-implantation development; and H19 is bi-allelically expressed until 16.5 days postcoitum.
38. Latham KE, Rambhatla L, Hayashizaki Y, Chapman VM: Stage-• specific induction and regulation by genomic imprinting of the mouse U2afbp-rs gene during preimplantation development. Dev Biol 1995, 168:670-676. Genomic imprinting regulates U2afbprs-1 expression from the time of its induction in the two-cell stage ovum.
39. Hatada I, Kitagawa K, Yamaoka T, Wang XD, Arai Y, Hashido K, • Ohishi S, Masuda J, Ogata J, Mukai T: Allele-specific methylation and expression of an imprinted U2af1-rs1 (SP2) gene. Nucleic Acids Res 1995, 23:36-41. U2afbprs-1 maps to chromosome 11. Allele-specific expression occurs in the two-cell stage ovum.
40. Tremblay KD, Saam JR, Ingram RS, Tilghman SM, Barlolomei MS: • A paternal-specific methylation imprint marks the alleles of the mouse H19 gene. Nat Genet 1995, 9:407-413. Differential methylation of the 5′ region of H19 is established in the germline and maintained in the pre-implantation embryo.
41. Razin A, Cedar H: DNA methylation and genomic imprinting. Cell 1994, 77:473-476.
42. Li E, Beard C, Jaenisch R: Role for DNA methylation in genomic imprinting. Nature 1993, 366:362-365.
43. Christofori G, Naik P, Hanahan D: Deregulation of both imprinted and expressed alleles of the insulin-like growth factor 2 gene during beta-cell tumorigenesis. Nat Genet 1995, 10:196-201.
44. Kalscheuer VM, Mariman EC, Schepens MT, Render H, Ropers HH: The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet 1993, 5:74-78.
45. Smrzka OW, Fae I, Stoger R, Kurzbauer R, Fischer GF, Henn T, • Weith A, Barlow DP: Conservation of a maternal-specific methylation signal at the human IGF2R locus. Hum Mol Genet 1995, 4:1945-1952. IGF2R contains an intronic CpG-island-like sequence which is maternally methylated. In this study, despite this methylation bi-allelic expression was detected in 69 of 70 lymphoblastoid cell lines.
46. Jinno Y, Yun K, Nishiwaki K, Kubota T, Ogawa O, Reeve AE, Niikawa N: Mosaic and polymorphic imprinting of the WT1 gene in humans. Nat Genet 1994, 6:305-309.
47. Jinno Y, Ikeda Y, Yun K, Maw M, Masuzaki H, Fukuda H, Inuzuka K, Fujishita A, Ohtani Y, Okimoto T et al.: Establishment of functional imprinting of the H19 gene in human developing placentae. Nat Genet 1995, 10:318-324.
48. Kitsberg D, Selig S, Brandeis M, Simon I, Keshet I, Driscoll DJ, Nicholls RD, Cedar H: Allele-specific replication timing of Imprinted gene regions. Nature 1993, 364:459-463.
49. Bickmore WA, Carothers AD: Factors affecting the timing and imprinting of replication on a mammalian chromosome. J Cell Sci 1995, 108:2801-2809.
50. Gunaratne PH, Nakao M, Ledbetter DH, Sutcliffe JS, Chinault AC: Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region. Genes Dev 1995, 9:808-820.
51. Kawame H, Gartler SM, Hansen RS: Allele-specific replication timing in imprinted domains: absence of asynchrony at several loci. Hum Mol Genet 1995, 4:2287-2293.
52. Lin MS, Zhang A, Fujimoto A: Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication. Hum Genet 1995, 96:572-576.
53. Paldi A, Gyapay G, Jami J: Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. Curr Biol 1995, 5:1030-1035.
54. Robinson WP, Lalande M: Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region. Hum Mol Genet 1995, 4:801-806.
55. Taylor JH: Asynchronous duplication of chromosomes in cultured cells of Chinese hamster. J Biophys Biochem Cytol 1960, 7:455-463.
56. Chess A, Simon I, Cedar H, Axel R: Allelic inactivation regulates olfactory receptor gene expression. Cell 1994, 78:823-834.
57. Otten AD, Tapscott SJ: Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci USA 1995, 92:5465-5469.
58. Kuroiwa Y, Kaneko-Ishino T, Kagitani F, Kohda T, Li L-L, Tada M, Suzuki R, Yokoyama M, Shiroishi T, Wakana S et al.: Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein. Nat Genet 1996, 12:186-190.
59. Mandel JL: Questions of expansion. Nat Genet 1993, 4:8-9.
60. Martin CC, Mcgowan R: Genotype-specific modifiers of transgene methylation and expression in the zebrafish, Danio rerio. Genet Res 1995, 65:21-28.
61. Martin CC, Mcgowan R: Parent-of-origin specific effects on the • methylation of a transgene in the zebrafish, Danio rerio. Dev Genet 1995, 17:233-239. Methylation of a transgene is affected by the sex of the parent transmitting the allele. This is the first evidence for imprinting in organisms other than placental mammals.
62. Tsang P, Gilles F, Yuan LW, Kuo YH, Lupu F, Samara G, Moosikasuwan J, Goye A, Zelenetz AD, Selleri L, Tycko B: A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues. Hum Mol Genet 1995, 4:1499-1507.