Epigenetics
The genomics revolution has fundamentally reshaped our understanding of multiple facets of reproductive medicine. Indeed errors in the DNA blueprint or chromosome copy number can now be easily identified and associated pathology can be avoided. However, a greater appreciation for the impact that epigenetic marks (such as DNA methylation, histone modification, or microRNA post-transcriptional processing) have on the success of gene expression has recently emerged.
Researchers at IVIRMA Global are devising strategies to characterize the methylation profiles of gametes and preimplantation embryos with an eye towards identifying abnormalities that are associated with failed embryogenesis and implantation. In addition, ongoing projects are examining the predictive power of methylation levels in somatic cells in identifying early, subtle signs of reproductive aging.
Investigators working in this area
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Publications from this area
- The appraisal of body content (ABC) trial: obesity does not significantly impact gamete production in infertile men and women.
Kim J Juneau C Patounakis G Morin S Neal S Seli E Scott RT
J Assist Reprod Genet. 2020 Aug 22. doi: 10.1007/s10815-020-01930-3. Online ahead of print.
- A 5-year Multicenter Randomized Controlled Trial of In Vitro Fertilization with Personalized Blastocyst Transfer versus Frozen or Fresh Transfer.
Simon C Gomez C Cabanillas S Vladimirov I Castillón G Gilés J Boynukalin K Findikli N Bahceci M Ortega I Vidal C Funabiki M Izquierdo A Lopez L S. Portela Frantz N Kulmann M Taguchi S Labarta E Colucci F Mackens S Santamaría XE. Munoz S. Barrera García-Velasco JA Fernandez M Ferrando M Ruiz M Mol B Valbuena D for the ERA-RCT Study Consortium Group
Reproductive BioMedicine OnlineIn press, journal pre-proofAvailable online 15 June 2020
- Oocyte and Embryo Manipulation and Epigenetics.
Osman E Franasiak J Scott RT
Semin Reprod Med. 2018 May;36(3-04):e1-e9. doi: 10.1055/s-0039-1688801. Epub 2019 May 14.
- Obesity, male infertility, and the sperm epigenome. [Review].
Craig JR Jenkins TG Carrell DT Hotaling J
Fertil Steril, 107(4), 848-859, 2017.
- Cigarette smoking significantly alters sperm DNA methylation patterns.
Jenkins TG James ER Alonso DF Hoidal JR Murphy PJ Hotaling J Cairns BR Carrell DT Aston KI
Andrology, 5(6), 1089 1099,2017.
- Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development.
Guo J Grow EJ Yi C Mlcochova H Maher GJ Lindskog C Murphy PJ Wike CL Carrell DT Goriely A Hotaling J Cairns BR
Cell Stem Cell, 21(4), 533-546.e6, 2017.
- What the human sperm methylome tells us.
Camprubí C Cigliano RA Salas-Huetos A Garrido N Blanco J.
Epigenomics. 2017 Sep 7. doi: 10.2217/epi-2017-0049. [Epub ahead of print]
- Intra-sample heterogeneity of sperm DNA methylation.
Jenkins TG Aston K Trost C Farley J Hotaling J Carrell D
Mol Hum Reprod, 21(4), 313-9, 2015.
- Global deoxyribonucleic acid methylation: a window into the spermatogonial stem cell's reproductive potential.
Hotaling J
Fertil Steril, 104(6), 1374-5, 2015.
- Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients
Camprubí C Pladevall M Grossmann M Garrido N Pons MC Blanco J
J Assist Reprod Genet, 30:1125-1131, 2013.
Presentations from this area
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Cruz M Vergara V Requena A P-857 TYPE OF FOLLITROPIN ALFA FOR OVARIAN STIMULATION WITH MEDROXYPROGESTERONE ACETATE DOES NOT AFFECT CLINICAL OUTCOMES IN A DONOR-RECIPIENT PROGRAM Presented at 76th American Society of Reproductive Medicine Scientific Congress
ASRM2020
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Insua M Díez Juan A Mercader A Bellver J Escrich L Pellicer A De los Santos MJ P-265: Total mitochondrial DNA (mtDNA) content decreases along embryo development, insights of mtDNA turnover in human preimplantation development. Presented at the 74th Scientific Congress & Expo of the American Society for Reproductive Medicine
ESHRE 2019
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Kim G Morin SJ Patounakis G Juneau C Neal SA Abc trial: appraisal of body content. Frozen embryo cycles are not impacted by the negative effects of obesity seen in fresh cycles Presented at the 65th Annual Meeting of the Society for Reproductive Investigation
ASRM 2018
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Tiegs W Tao X Landis J Rajchel J Bedard JL Seli E Wells D Fragouli E Scott RT
Evaluation of sperm mitochondrial dna copy number as a predictor of in vitro fertilization/intracytoplasmic sperm injection (ivf/icsi) cycle outcomes in a large infertile population
Presented at the 65th Annual Meeting of the Society for Reproductive Investigation
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Devesa A Sebastian-Leon P Garcia-Garcia F Arnau V Pellicer A Diaz-Gimeno P Functional genomic meta-analysis identifies similarities between endometrial-related subfertilities Presented at the 73rd annual meeting of the American Society of Reproductive Medicine
ESHRE 2018