Variable imprinting of the MEST gene in human preimplantation embryos

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 40-47

  Huntriss, John D ^a   Hemmings, Karen E ^a   Hinkins, Matthew ^a   Rutherford, Anthony J ^b   Sturmey, Roger G ^c   Elder, Kay ^d   Picton, Helen M ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b SEACROFT HOSPITAL   (United Kingdom)

^c UNIVERSITY OF HULL   (United Kingdom)

^d Bourn Hall Clinic ^*  (United Kingdom)

Author keywords

assisted reproduction; epigenetic; imprinted; imprinting; PEG1 MEST; preimplantation

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESODERM SPECIFIC TRANSCRIPT PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BLASTOCYST; COHORT ANALYSIS; CONTROLLED STUDY; DNA POLYMORPHISM; EMBRYO; FEMALE; FEMALE INFERTILITY; FERTILIZATION IN VITRO; GENE EXPRESSION; GENETIC VARIABILITY; GENOME IMPRINTING; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INTRACYTOPLASMIC SPERM INJECTION; MOLECULAR LIBRARY; MORULA; OOCYTE; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL;

3' UNTRANSLATED REGIONS; ALTERNATIVE SPLICING; BLASTOCYST; COHORT STUDIES; DNA, COMPLEMENTARY; FEMALE; FERTILIZATION IN VITRO; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOMIC IMPRINTING; HETEROZYGOTE; HUMANS; MALE; MORULA; OOCYTES; POLYMORPHISM, GENETIC; PROTEINS; REPRODUCTIVE TECHNIQUES, ASSISTED; SPERM INJECTIONS, INTRACYTOPLASMIC;

EID: 84871180144     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.102     Document Type: Article

References (54)

1. Beechey CV: Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Cytogenet Cell Genet 2000; 90: 309-314.
2. Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA: Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nat Genet 1998; 20: 163-169.
3. Takahashi M, Kamei Y, Ezaki O: Mest/Peg1 imprinted gene enlarges adipocytes and is a marker of adipocyte size. Am J Physiol Endocrinol Metab 2005; 288: E117-E124.
4. Kamei Y, Suganami T, Kohda T et al: Peg1/Mest in obese adipose tissue is expressed from the paternal allele in an isoform-specific manner. FEBS Lett 2007; 581: 91-96.
5. Nikonova L, Koza RA, Mendoza T, Chao PM, Curley JP, Kozak LP: Mesoderm-specific transcript is associated with fat mass expansion in response to a positive energy balance. FASEB J 2008; 22: 3925-3937.
6. Jung H, Lee SK, Jho EH: Mest/Peg1 inhibits Wnt signaling via regulation of LRP6 glycosylation. Biochem J 2011; 436: 263-269.
7. Kobayashi S, Kohda T, Miyoshi N et al: Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 1997; 6: 781-786.
8. Riesewijk AM, Hu L, Schulz U et al: Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 1997; 42: 236-244.
9. Riesewijk AM, Blagitko N, Schinzel AA et al: Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur. J Hum Genet 1998; 6: 114-120.
10. Kobayashi S, Uemura H, Kohda T et al: No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. Am J Med Genet 2001; 104: 225-231.
11. Schöherr N, Jäger S, Ranke MB et al: No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients. Eur J Med Genet 2008; 51: 322-324.
12. Shi W, Lefebvre L, Yu Y et al: Loss-of-imprinting of Peg1 in mouse interspecies hybrids is correlated with altered growth. Genesis 2004; 39: 65-72.
13. Nishihara S, Hayashida T, Mitsuya K et al: Multipoint imprinting analysis in sporadic colorectal cancers with and without microsatellite instability. Int J Oncol 2000; 17: 317-322.
14. Nakanishi H, Suda T, Katoh M et al: Loss of imprinting of PEG1/MEST in lung cancer cell lines. Oncol Rep 2004; 12: 1273-1278.
15. Pedersen IS, Dervan PA, Broderick D et al: Frequent loss of imprinting of PEG1/MEST in invasive breast cancer. Cancer Res 1999; 59: 5449-5451.
16. Pedersen IS, Dervan P, McGoldrick A et al: Promoter switch: a novel mechanism causing biallelic PEG1/MEST expression in invasive breast cancer. Hum Mol Genet 2002; 11: 1449-1453.
17. Huntriss J, Picton HM: Epigenetic consequences of assisted reproduction and infertility on the human preimplantation embryo. Hum Fertil (Camb) 2008; 11: 85-94.
18. Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T: Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. J Assist Reprod Genet 2007; 24: 131-136.
19. Sato A, Otsu E, Negishi H, Utsunomiya T, Arima T: Aberrant DNA methylation of imprinted loci in superovulated oocytes. Hum Reprod 2007; 22: 26-35.
20. Katari S, Turan N, Bibikova M et al: DNA methylation and gene expression differences in children conceived in vitro or in vivo. Hum Mol Genet 2009; 18: 3769-3778.
21. Tierling S, Souren NY, Gries J et al: Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. J Med Genet 2010; 47: 371-376.
22. Imamura T, Kerjean A, Heams T, Kupiec JJ, Thenevin C, Paldi A: Dynamic CpG and non-CpG methylation of the Peg1/Mest gene in the mouse oocyte and preimplantation embryo. J Biol Chem 2005; 280: 20171-20175.
23. Anckaert E, Romero S, Adriaenssens T, Smitz J: Effects of low methyl donor levels in culture medium during mouse follicle culture on oocyte imprinting establishment. Biol Reprod 2010; 83: 377-386.
24. Kerjean A, Couvert P, Heams T et al: In vitro follicular growth affects oocyte imprinting establishment in mice. Eur. J Hum Genet 2003; 11: 493-496.
25. Lee Y,S, Latham KE, Vandevoort CA: Effects of in vitro maturation on gene expression in rhesus monkey oocytes. Physiol Genomics 2008; 35: 145-158.
26. Marques CJ, Costa P, Vaz B et al: Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia. Mol Hum Reprod 2008; 14: 67-74.
27. Hammoud SS, Purwar J, Pflueger C, Cairns BR, Carrell DT: Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility. Fertil Steril 2010; 94: 1728-1733.
28. Poplinski A, Tüttelmann F, Kanber D, Horsthemke B, Gromoll J: Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1. Int J Androl 2010; 33: 642-649.
29. Kobayashi H, Sato A, Otsu E et al: Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients. Hum Mol Genet 2007; 16: 2542-2551.
30. Houshdaran S, Cortessis VK, Siegmund K, Yang A, Laird PW, Sokol RZ: Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm. PLoS One 2007; 2: e1289.
31. Huntriss J, Woodfine K, Huddleston JE et al: Quantitative analysis of DNA methylation of imprinted genes in single human blastocysts by pyrosequencing. Fertil Steril 2011; 95: 2564-2567.
32. Houghton FD, Hawkhead JA, Humpherson PG et al: Non-invasive amino acid turnover predicts human embryo developmental capacity. Hum Reprod 2002; 17: 999-1005.
33. Ghassemifar MR, Eckert JJ, Houghton FD, Picton HM, Leese HJ, Fleming TP: Gene expression regulating epithelial intercellular junction biogenesis during human blastocyst development in vitro. Mol Hum Reprod 2003; 9: 245-252.
34. Tay JI, Rutherford AJ, Killick SR, Maguiness SD, Partridge RJ, Leese HJ: Human tubal fluid: production, nutrient composition and response to adrenergic agents. Hum Reprod 1997; 12: 2451-2456.
35. Eberwine J, Yeh H, Miyashiro K et al: Analysis of gene expression in single live neurons. Proc Natl Acad Sci USA 1992; 89: 3010-3014.
36. Wang E, Miller LD, Ohnmacht GA, Liu ET, Marincola FM: High-fidelity mRNA amplification for gene profiling. Nat Biotechnol 2000; 18: 457-459.
37. McMinn J, Wei M, Sadovsky Y, Thaker HM, Tycko B: Imprinting of PEG1/MEST isoform 2 in human placenta. Placenta 2006; 27: 119-126.
38. Salpekar A, Huntriss J, Bolton V, Monk M: The use of amplified cDNA to investigate the expression of seven imprinted genes in human oocytes and preimplantation embryos. Mol Hum Reprod 2001; 7: 839-844.
39. Cui H, Horon IL, Ohlsson R, Hamilton SR, Feinberg AP: Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability. Nat Med 1998; 4: 1276-1280.
40. Kim KP, Thurston A, Mummery C et al: Gene-specific vulnerability to imprinting variability in human embryonic stem cell lines. Genome Res 2007; 17: 1731-1742.
41. Kosaki K, Kosaki R, Craigen WJ, Matsuo N: Isoform-specific imprinting of the human PEG1/MEST gene. Am J Hum Genet 2000; 66: 309-312.
42. Li T, Vu TH, Lee KO et al: An imprinted PEG1/MEST antisense expressed predominantly in human testis and in mature spermatozoa. J Biol Chem 2002; 277: 13518-13527.
43. Lighten AD, Hardy K, Winston RM, Moore GE: IGF2 is parentally imprinted in human preimplantation embryos. Nat Genet 1992; 15: 122-123.
44. Huntriss J, Daniels R, Bolton V, Monk M: Imprinted expression of SNRPN in human preimplantation embryos. Am J Hum Genet 1998; 63: 1009-1014.
45. Monk M, Salpekar A: Expression of imprinted genes in human preimplantation development. Mol Cell Endocrinol 2001; 183:Suppl 1 S35-S40.
46. McElroy SL, Byrne JA, Chavez SL et al: Parthenogenic blastocysts derived from cumulus-free in vitro matured human oocytes. PLoS One 2010; 5: e10979.
47. Diplas AI, Lambertini L, Lee MJ et al: Differential expression of imprinted genes in normal and IUGR human placentas. Epigenetics 2009; 4: 235-240.
48. Nakabayashi K, Bentley L, Hitchins MP et al: Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Hum Mol Genet 2002; 11: 1743-1756.
49. Adewumi O, Aflatoonian B, Ahrlund-Richter L et al: Characterization of human embryonic stem cell lines by the International Stem Cell Initiative. Nat Biotechnol 2007; 25: 803-816.
50. Frost JM, Monk D, Moschidou D et al: The effects of culture on genomic imprinting profiles in human embryonic and fetal mesenchymal stem cells. Epigenetics 2011; 6: 52-62.
51. Koza RA, Rogers P, Kozak LP: Inter-individual variation of dietary fat-induced mesoderm specific transcript in adipose tissue within inbred mice is not caused by altered promoter methylation. Epigenetics 2009; 4: 512-518.
52. Koza RA, Nikonova L, Hogan J et al: Changes in gene expression foreshadow diet-induced obesity in genetically identical mice. PLoS Genet 2006; 2: e81.
53. Obata Y, Hiura H, Fukuda A, Komiyama J, Hatada I, Kono T: Epigenetically immature oocytes lead to loss of imprinting during embryogenesis. J Reprod Dev 2011; 57: 327-334.
54. Macisaac J, Bogutz A, Morrissy A, Lefebvre L: Tissue-specific alternative polyadenyla-tion at the imprinted gene Mest regulates allelic usage at Copg2. Nucleic Acids Res 2012; 40: 1523-1535.