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
Publications from this area
- Fetal nondiabetic-macrosomia: risk factors for pregnancy adverse outcome and comparison of two growth curves in the prediction of cesarean section.
Simeone S Vannuccini S Proietto R Serena C Ottanelli S Rambaldi MP Lisi F Clemenza S Comito C Cozzolino M Petraglia F Mecacci F
J Matern Fetal Neonatal Med. 2021 Feb 24:1-8. doi: 10.1080/14767058.2021.1888918. Online ahead of print.
- Young women with poor ovarian response exhibit epigenetic age acceleration based on evaluation of white blood cells using a DNA methylation-derived age prediction model.
Hanson BM Tao X Zhan Y Jenkins TG Morin SJ Scott RT Seli EU
Hum Reprod. 2020 Nov 1;35(11):2579-2588. doi: 10.1093/humrep/deaa206.
- Impact of Genetic Variations and Epigenetic Mechanisms on the Risk of Obesity.
Chiurazzi M Cozzolino M Orsini RC Di Maro M Di Minno MND Colantuoni A
Int J Mol Sci. 2020 Nov 27;21(23):E9035. doi: 10.3390/ijms21239035.
- Sperm DNA Methylation Epimutation Biomarker for Paternal Offspring Autism Susceptibility
Garrido N Cruz F Egea R Simón C Sadler-Riggleman I Beck D Nilsson E Ben Maamar M Skinner MK
Clin Epigenetics . 2021 Jan 7;13(1):6. doi: 10.1186/s13148-020-00995-2.
- 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.
- 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.
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
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
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
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
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
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