Primary epimutations introduced during intracytoplasmic sperm injection (ICSI) are corrected by germline-specific epigenetic reprogramming

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 11, 2012, Pages 4163-4168

  De Waal, Eric ^a   Yamazaki, Yukiko ^b   Ingale, Puraskar ^a   Bartolomei, Marisa ^c   Yanagimachi, Ryuzo ^b   McCarrey, John R ^a  

^a UNIVERSITY OF TEXAS AT SAN ANTONIO   (United States)

^b UNIVERSITY OF HAWAII   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Gametogenesis; Transgenerational inheritance

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONCEPTION; CONTROLLED STUDY; DNA METHYLATION; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENOME IMPRINTING; GERM CELL; GERM LINE; INFERTILITY THERAPY; INTRACYTOPLASMIC SPERM INJECTION; MALE; MATING TYPE; MOUSE; NONHUMAN; PRIORITY JOURNAL; SOMATIC CELL;

ALLELES; ANIMALS; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENOMIC IMPRINTING; GERM CELLS; MALE; MICE; MICE, INBRED C57BL; MUTATION; NUCLEAR REPROGRAMMING; REPRODUCTION; SPERM INJECTIONS, INTRACYTOPLASMIC;

ANIMALIA; MUS;

EID: 84858271589     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1201990109     Document Type: Article

References (30)

1. Morgan HD, Santos F, Green K, Dean W, Reik W (2005) Epigenetic reprogramming in mammals. Hum Mol Genet 14(Spec No 1):R47-R58. (Pubitemid 40542620)
2. Renfree MB, Hore TA, Shaw G, Graves JA, Pask AJ (2009) Evolution of genomic imprinting: Insights from marsupials and monotremes. Annu Rev Genomics Hum Genet 10:241-262.
3. Reik W, Walter J (2001) Genomic imprinting: Parental influence on the genome. Nat Rev Genet 2:21-32. (Pubitemid 33674766)
4. Brandeis M, et al. (1993) The ontogeny of allele-specific methylation associated with imprinted genes in the mouse. EMBO J 12:3669-3677. (Pubitemid 23256454)
5. Li E, Beard C, Jaenisch R (1993) Role for DNA methylation in genomic imprinting. Nature 366:362-365. (Pubitemid 23349366)
6. McCarrey JR (September 25, 2011) The epigenome as a target for heritable environmental disruptions of cellular function. Mol Cell Endocr, 10.1016/j.mce.2011.09.014.
7. Horsthemke B (2006) Epimutations in human disease. Curr Top Microbiol Immunol 310:45-59.
8. Fortier AL, Lopes FL, Darricarrère N, Martel J, Trasler JM (2008) Superovulation alters the expression of imprinted genes in the midgestation mouse placenta. Hum Mol Genet 17:1653-1665. (Pubitemid 351737169)
9. Hori N, et al. (2010) Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndrome. Anim Reprod Sci 122:303-312.
10. Tremblay KD, Saam JR, Ingram RS, Tilghman SM, Bartolomei MS (1995) A paternalspecific methylation imprint marks the alleles of the mouse H19 gene. Nat Genet 9: 407-413.
11. John RM, Lefebvre L (2011) Developmental regulation of somatic imprints. Differentiation 81:270-280.
12. Barr JA, Jones J, Glenister PH, Cattanach BM (1995) Ubiquitous expression and imprinting of Snrpn in the mouse. Mamm Genome 6:405-407.
13. Cox GF, et al. (2002) Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 71:162-164.
14. DeBaun MR, Niemitz EL, Feinberg AP (2003) Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 72:156-160. (Pubitemid 36056851)
15. Doherty AS, Mann MR, Tremblay KD, Bartolomei MS, Schultz RM (2000) Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biol Reprod 62:1526-1535. (Pubitemid 30333732)
16. Sato A, Otsu E, Negishi H, Utsunomiya T, Arima T (2007) Aberrant DNA methylation of imprinted loci in superovulated oocytes. Hum Reprod 22:26-35. (Pubitemid 44942663)
17. Market-Velker BA, Zhang L, Magri LS, Bonvissuto AC, Mann MR (2010) Dual effects of superovulation: Loss of maternal and paternal imprinted methylation in a dose-dependent manner. Hum Mol Genet 19:36-51.
18. Turan N, et al. (2010) Inter- and intra-individual variation in allele-specific DNA methylation and gene expression in children conceived using assisted reproductive technology. PLoS Genet 6:e1001033.
19. Mann MR, et al. (2003) Disruption of imprinted gene methylation and expression in cloned preimplantation stage mouse embryos. Biol Reprod 69:902-914. (Pubitemid 37064619)
20. Fauque P, et al. (2007) Assisted Reproductive Technology affects developmental kinetics, H19 Imprinting Control Region methylation and H19 gene expression in individual mouse embryos. BMC Dev Biol 7:116.
21. Popp C, et al. (2010) Genome-wide erasure of DNA methylation in mouse primordial germ cells is affected by AID deficiency. Nature 463:1101-1105.
22. Anway MD, Skinner MK (2006) Epigenetic transgenerational actions of endocrine disruptors. Endocrinology 147(6, Suppl):S43-S49. (Pubitemid 43764589)
23. Tremblay KD, Duran KL, Bartolomei MS (1997) A 5′ 2-kilobase-pair region of the imprinted mouse H19 gene exhibits exclusive paternal methylation throughout development. Mol Cell Biol 17:4322-4329. (Pubitemid 27318108)
24. Lucifero D, Mertineit C, Clarke HJ, Bestor TH, Trasler JM (2002) Methylation dynamics of imprinted genes in mouse germ cells. Genomics 79:530-538. (Pubitemid 34274294)
25. Kimura Y, Yanagimachi R (1995) Intracytoplasmic sperm injection in the mouse. Biol Reprod 52:709-720.
26. Yamazaki Y, Wakayama T, Yanagimachi R (2001) Contribution of cumulus cells and serum to the maturation of oocyte cytoplasm as revealed by intracytoplasmic sperm injection (ICSI). Zygote 9:277-282. (Pubitemid 33691875)
27. McCarrey JR, et al. (1992) Differential transcription of Pgk genes during spermatogenesis in the mouse. Dev Biol 154:160-168.
28. Birnboim HC, Doly J (1979) A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res 7:1513-1523.
29. Kumaki Y, Oda M, Okano M (2008) QUMA: Quantification tool for methylation analysis. Nucleic Acids Res 36(Web Server issue):W170-175.
30. Singer-Sam J, LeBon JM, Dai A, Riggs AD (1992) A sensitive, quantitative assay for measurement of allele-specific transcripts differing by a single nucleotide. PCR Methods Appl 1:160-163.