Imprinted genes and placental growth: Implications for the developmental origins of health and disease

The Placenta and Human Developmental Programming

Volumn , Issue , 2010, Pages 57-73

  Tycko, Benjamin ^a   John, Rosalind ^b  

^a NewYork Presbyterian Hospital   (United States)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84866407240     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511933806.007     Document Type: Chapter

References (92)

1. Cattanach BM, Beechey, Peters. Interactions between imprinting effects: summary and review. Cytogenet Genome Res2006; 113(1–4): 17–23.
2. Tycko B. Imprinted genes in placental growth and obstetric disorders. Cytogenet Genome Res2006; 113(1–4): 271–8.
3. Redline RW et al. Differential expression of insulin-like growth factor-II in specific regions of the late (post day 9.5) murine placenta. Mol Reprod Dev1993; 36(2): 121–9.
4. Lustig O et al. Expression of the imprinted gene H19 in the human fetus. Mol Reprod Dev1994; 38(3): 239–46.
5. Han VK, Carter AM. Spatial and temporal patterns of expression of messenger RNA for insulin-like growth factors and their binding proteins in the placenta of man and laboratory animals. Placenta2000; 21(4): 289–305.
6. Constancia M et al. Placental-specific IGF-II is a major modulator of placental and fetal growth. Nature2002; 417(6892): 945–8.
7. Dao D et al. IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes. Hum Mol Genet1998; 7(4): 597–608.
8. Qian N et al.The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis. Hum Mol Genet 1997; 6(12): 2021–9.
9. Lee MP, Feinberg AP. Genomic imprinting of a human apoptosis gene homologue, TSSC3. Cancer Res1998; 58(5): 1052–6.
10. Chilosi M et al. Differential expression of p57kip2, a maternally imprinted cdk inhibitor, in normal human placenta and gestational trophoblastic disease. Lab Invest1998; 78(3): 269–76.
11. Castrillon DH et al. Discrimination of complete hydatidiform mole from its mimics by immunohistochemistry of the paternally imprinted gene product p57KIP2. Am J Surg Pathol2001; 25(10): 1225–30.
12. Saxena A et al.The product of the imprinted gene IPL marks human villous cytotrophoblast and is lost in complete hydatidiform mole. Placenta 2003; 24(8–9): 835–42.
13. Takahashi K, Kobayashi T, Kanayama N. p57(Kip2) regulates the proper development of labyrinthine and spongiotrophoblasts. Mol Hum Reprod2000; 6(11): 1019–25.
14. Frank D et al. Placental overgrowth in mice lacking the imprinted gene Ipl. Proc Natl Acad Sci USA2002; 99(11): 7490–5.
15. Salas M et al. Placental growth retardation due to loss of imprinting of Phlda2. Mech Dev2004; 121(10): 1199–210.
16. Tunster SJ, Tycko B, John RM.The imprinted Phlda2 gene regulates extraembryonic energy stores. Mol Cell Biol2009; 30(1): 295–306.
17. Dao D et al. Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimalWT2 region, gene specificity of H19 silencing inWilms’ tumorigenesis and methylation hyper-dependence of H19 imprinting. Hum Mol Genet1999; 8(7): 1337–52.
18. Caspary T et al. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster. Mol Cell Biol1998; 18(6): 3466–74.
19. Tanaka M et al. Parental origin-specific expression of Mash2 is established at the time of implantation with its imprinting mechanism highly resistant to genome-wide demethylation. Mech Dev1999; 87(1–2): 129–42.
20. Lewis A et al. Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation. Nature Genet2004; 36(12): 1291–5.
21. Umlauf D et al. Imprinting along the Kcnq1 domain on mouse chromosome 7 involves repressive histone methylation and recruitment of Polycomb group complexes. Nature Genet2004; 36(12): 1296–300.
22. Kacem S, Feil R. Chromatin mechanisms in genomic imprinting. Mamm Genome2009; 10: 54–56.
23. Shin JY, Fitzpatrick GV, Higgins MJ. Two distinct mechanisms of silencing by the KvDMR1 imprinting control region. EMBO J2008; 27(1): 168–78.
24. Fitzpatrick GV, Soloway PD, Higgins MJ. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nature Genet2002; 32(3): 426–31.
25. Henckel A et al. Histone methylation is mechanistically linked to DNA methylation at imprinting control regions in mammals. Hum Mol Genet2009; 18(18): 3375–83.
26. Ono R et al. A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21. Genomics2001; 73(2): 232–7.
27. Okita C et al. A new imprinted cluster on the human chromosome 7q21-q31, identified by human-mouse monochromosomal hybrids. Genomics2003; 81(6): 556–9.
28. Li CM et al. PEG10 is a c-MYC target gene in cancer cells. Cancer Res2006; 66(2): 665–72.
29. Kaneko-Ishino T et al. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nature Genet1995; 11(1): 52–9.
30. Kobayashi S et al. Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet1997; 6(5): 781–6.
31. McMinn J et al. Imprinting of PEG1/MEST isoform 2 in human placenta. Placenta2006; 27(2–3): 119–26.
32. Pedersen IS et al. Promoter switch: a novel mechanism causing biallelic PEG1/MEST expression in invasive breast cancer. Hum Mol Genet2002; 11(12): 1449–53.
33. Nikonova L et al. Mesoderm-specific transcript is associated with fat mass expansion in response to a positive energy balance. FASEB J2008; 22(11): 3925–37.
34. Mayer W et al. Expression of the imprinted genes MEST/Mest in human and murine placenta suggests a role in angiogenesis. Dev Dyn2000; 217(1): 1–10.
35. Stepan H et al. Structure and regulation of the murine Mash2 gene. Biol Reprod2003; 68(1): 40–4.
36. Nakayama H et al. Developmental restriction of Mash-2 expression in trophoblast correlates with potential activation of the notch-2 pathway. Dev Genet1997; 21(1): 21–30.
37. Alders M et al.The human Achaete-Scute homologue 2 (ASCL2, HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. Hum Mol Genet 1997; 6(6): 859–67.
38. Miyamoto T et al.The human ASCL2 gene escaping genomic imprinting and its expression pattern. J Assist Reprod Genet 2002; 19(5): 240–4.
39. Hiby SE et al. Paternal monoallelic expression of PEG3 in the human placenta. Hum Mol Genet2001; 10(10): 1093–100.
40. Kim J et al.The human homolog of a mouse-imprinted gene, Peg3, maps to a zinc finger gene-rich region of human chromosome 19q13.4. Genome Res 1997; 7(5): 532–40.
41. Sekita Y et al. Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta. Nature Genet2008; 40(2): 243–8.
42. DeChiara TM, Robertson EJ, Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell1991; 64(4): 849–59.
43. Barlow DP et al.The mouse insulin-like growth factor type-2 receptor is imprinted and closely linked to the Tme locus. Nature 1991; 349(6304): 84–7.
44. Haig D, Graham C. Genomic imprinting and the strange case of the insulin-like growth factor II receptor. Cell1991; 64(6): 1045–6.
45. Moore T, Haig D. Genomic imprinting in mammalian development: a parental tug-of-war. Trends Genet1991; 7(2): 45–9.
46. Gluckman PD. Endocrine and nutritional regulation of prenatal growth. Acta Paediatr Suppl 1997; 423: 153–7; discussion 158.
47. Baker J et al. Role of insulin-like growth factors in embryonic and postnatal growth. Cell1993; 75(1): 73–82.
48. Eggenschwiler J et al. Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi- Behmel syndromes. Genes Dev1997; 11(23): 3128–42.
49. Riccio A et al. Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome andWilms’ tumor. Endocr Dev2009; 14: 1–9.
50. Tanaka M et al. Mash2 acts cell autonomously in mouse spongiotrophoblast development. Dev Biol1997; 190(1): 55–65.
51. Saxena A et al. Phosphoinositide binding by the pleckstrin homology domains of Ipl and Tih1. J Biol Chem2002; 277(51): 49935–44.
52. Frank D et al. A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: tissue-specific expression, chromosomal location, and parental imprinting. Mamm Genome1999; 10(12): 1150–9.
53. Kanayama N et al. Deficiency in p57Kip2 expression induces preeclampsia-like symptoms in mice. Mol Hum Reprod2002; 8(12): 1129–35.
54. Caspary T et al. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Genes Dev1999; 13(23): 3115–24.
55. Knox KS, Baker JC. Genome-wide expression profiling of placentas in the p57Kip2 model of pre-eclampsia. Mol Hum Reprod2007; 13(4): 251–63.
56. Bliek J et al. Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS). J Pediatr2004; 145(6): 796–9.
57. Killian JK et al. M6P/IGF2R imprinting evolution in mammals. Mol Cell2000; 5(4): 707–16.
58. Xu Y et al. Functional polymorphism in the parental imprinting of the human IGF2R gene. Biochem Biophys Res Commun1993; 197(2): 747–54.
59. Yotova IY et al. Identification of the human homolog of the imprinted mouse Air non-coding RNA. Genomics2008; 92(6): 464–73.
60. Ludwig T et al. Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds. Dev Biol1996; 177(2): 517–35.
61. Wutz A et al. Non-imprinted Igf2r expression decreases growth and rescues the Tme mutation in mice. Development2001; 128(10): 1881–7.
62. Charalambous M et al. Disruption of the imprinted Grb10 gene leads to disproportionate overgrowth by an Igf2-independent mechanism. Proc Natl Acad Sci USA2003; 100(14): 8292–7.
63. Charalambous M et al. Maternally-inherited Grb10 reduces placental size and efficiency. Dev Biol2009; 337(1): 1–8.
64. Shiura H et al. Paternal deletion of Meg1/Grb10 DMR causes maternalization of the Meg1/Grb10 cluster in mouse proximal Chromosome 11 leading to severe pre- and postnatal growth retardation. Hum Mol Genet2009; 18(8): 1424–38.
65. Lefebvre L et al. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nature Genet1998; 20(2): 163–9.
66. Li L et al. Regulation of maternal behavior and offspring growth by paternally expressed Peg3. Science1999; 284(5412): 330–3.
67. Ono R et al. Deletion of Peg10, an imprinted gene acquired from a retrotransposon, causes early embryonic lethality. Nature Genet2006; 38(1): 101–6.
68. Tsou AP et al. Overexpression of a novel imprinted gene, PEG10, in human hepatocellular carcinoma and in regenerating mouse livers. J Biomed Sci2003; 10(6 Pt 1): 625–35.
69. Okabe H et al. Involvement of PEG10 in human hepatocellular carcinogenesis through interaction with SIAH1. Cancer Res2003; 63(12): 3043–8.
70. Bischoff SR et al. Characterization of conserved and nonconserved imprinted genes in swine. Biol Reprod2009; 81(5): 906–20.
71. Renfree MB et al. Genomic imprinting in marsupial placentation. Reproduction2008; 136(5): 523–31.
72. Varrault A et al. Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell2006; 11(5): 711–22.
73. Grati FR et al. Biparental expression of ESX1L gene in placentas from normal and intrauterine growth-restricted pregnancies. Eur J Hum Genet2004; 12(4): 272–8.
74. Li Y, Behringer RR. Esx1 is an X-chromosome-imprinted regulator of placental development and fetal growth. Nature Genet1998 20(3): 309–11.
75. Rodriguez TA et al. Cited1 is required in trophoblasts for placental development and for embryo growth and survival. Mol Cell Biol2004; 24(1): 228–44.
76. Gicquel C et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nature Genet2005; 37(9): 1003–7.
77. McMinn J et al. Unbalanced placental expression of imprinted genes in human intrauterine growth restriction. Placenta2006; 27(6–7): 540–9.
78. Apostolidou S et al. Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight. J MolMed2007; 85(4): 379–87.
79. Diplas AI et al. Differential expression of imprinted genes in normal and IUGR human placentas. Epigenetics2009; 4(4): 235–40.
80. Vuguin PM. Animal models for small for gestational age and fetal programming of adult disease. Horm Res2007; 68(3): 113–23.
81. Fowden AL et al. Programming placental nutrient transport capacity. J Physiol2006; 572(Pt 1): 5–15.
82. Holemans K, Aerts L, Van Assche FA. Fetal growth restriction and consequences for the offspring in animal models. J SocGynecol Invest2003; 10(7): 392–9.
83. Coan PM et al. Adaptations in placental nutrient transfer capacity to meet fetal growth demands depend on placental size in mice. J Physiol2008; 586(Pt 18): 4567–76.
84. Sparrow DB et al. Placental insufficiency associated with loss of Cited1 causes renal medullary dysplasia. J Am SocNephrol2009; 20(4): 777–86.
85. Dupressoir A et al. Syncytin-A knockout mice demonstrate the critical role in placentation of a fusogenic, endogenous retrovirus-derived, envelope gene. Proc Natl Acad Sci USA 2009; 106(29): 12127–32.
86. Robertson SA et al. Fertility impairment in granulocyte-macrophage colony-stimulating factor-deficient mice. Biol Reprod1999; 60(2): 251–61.
87. Ganguly A et al. Glucose transporter isoform-3 mutations cause early pregnancy loss and fetal growth restriction. Am J Physiol Endocrinol Metab2007; 292(5): E1241–55.
88. Wenzel PL, Leone G. Expression of Cre recombinase in early diploid trophoblast cells of the mouse placenta. Genesis2007; 45(3): 129–34.
89. Georgiades P et al. Trophoblast-specific gene manipulation using lentivirus-based vectors. Biotechniques 2007; 42(3): 317–8, 320, 322–5.
90. Okada Y et al. Complementation of placental defects and embryonic lethality by trophoblast-specific lentiviral gene transfer. Nature Biotechnol2007; 25(2): 233–7.
91. Moutier R et al. Placental anomalies and fetal loss in mice, after administration of doxycycline in food for tet-system activation. Transgenic Res2003; 12(3): 369–73.
92. Rossant J, Cross JC. Placenta development: lessons from mouse mutants. Nat Rev Genet2001; 2(7): 538–49.