Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

Yahan Li; Sena Lopes, Jordana; Coy-Fuster, Pilar; Melissa Rivera, Rocío

Publication:
Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome

dc.contributor.author	Yahan Li
dc.contributor.author	Sena Lopes, Jordana
dc.contributor.author	Coy-Fuster, Pilar
dc.contributor.author	Melissa Rivera, Rocío
dc.contributor.department	Didáctica y Organización Escolar	es
dc.date.accessioned	2025-09-05T10:21:15Z
dc.date.available	2025-09-05T10:21:15Z
dc.date.issued	2022-05-03
dc.description	© 2022 The Author(s)____ This document is the published version of a published work that appeared in final form in Epigenetics____ This document is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0 ____ To access the final edited and published work see: https://doi.org/10.1080/15592294.2022.2067938	es
dc.description.abstract	Large/abnormal offspring syndrome (LOS/AOS) is a congenital overgrowth syndrome reported in ruminants produced by assisted reproduction (ART-LOS) which exhibit global disruption of the epigenome and transcriptome. LOS/AOS shares phenotypes and epigenotypes with the human congenital overgrowth condition Beckwith-Wiedemann syndrome. We have reported that LOS occurs spontaneously (SLOS); however, to date, no study has been conducted to determine if SLOS has the same methylome epimutations as ART-LOS. In this study, we performed whole- genome bisulphite sequencing to examine global DNA methylation in bovine SLOS and ART-LOS tissues. We observed unique patterns of global distribution of differentially methylated regions (DMRs) over different genomic contexts, such as promoters, CpG Islands, shores and shelves, as well as at repetitive sequences. In addition, we included data from two previous LOS studies to identify shared vulnerable genomic loci in LOS. Overall, we identified 320 genomic loci in LOS that have alterations in DNA methylation when compared to controls. Specifically, there are 25 highly vulnerable loci that could potentially serve as molecular markers for the diagnosis of LOS, including at the promoters of DMRT2 and TBX18, at the imprinted gene bodies of IGF2R, PRDM8, and BLCAP/NNAT, and at multiple CpG Islands. We also observed tissue-specific DNA methylation patterns between muscle and blood, and conservation of ART-induced DNA methyla-tion changes between muscle and blood. We conclude that as ART-LOS, SLOS is an epigenetic condition. In addition, SLOS and ART-LOS share similarities in methylome epimutations.	es
dc.format	application/pdf	es
dc.format.extent	20	es
dc.identifier.citation	Epigenetics 2022, VOL. 17, NO. 11, 1477–149
dc.identifier.doi	https://doi.org/10.1080/15592294.2022.2067938
dc.identifier.issn	Print.: 1559-2294
dc.identifier.issn	Electronic.: 1559-2308
dc.identifier.uri	http://hdl.handle.net/10201/158171
dc.language	eng	es
dc.publisher	Taylor and Francis Group	es
dc.relation	The work in the US was supported by Agriculture and Food Research Initiative (grant AFRI - 2018-67015-27598) and Dr. Roger L. Morrison Scholarship from the College of Agriculture, Food & Natural Resources (to Yahan Li). The work in Spain was funded by European Union, Horizon 2020 Marie Sklodowska-Curie Action (Ref. REPBIOTECH 675526), Fundación Séneca, Murcia, Spain (ref. 20040/ GERM/16) and MCIN/AEI/10.13039/501100011033/ and FEDER una manera de hacer Europa (ref. Project I+D+I PID2020-113366RB-100).	es
dc.relation.publisherversion	https://www.tandfonline.com/doi/full/10.1080/15592294.2022.2067938	es
dc.rights	info:eu-repo/semantics/openAccess	es
dc.rights	Attribution-NonCommercial-NoDerivatives 4.0 Internacional	*
dc.rights.uri	http://creativecommons.org/licenses/by-nc-nd/4.0/	*
dc.subject	Spontaneous large offspring syndrome	es
dc.subject	Abnormal offspring syndrome	es
dc.subject	DNA methylation	es
dc.subject	Genomic imprinting	es
dc.subject	IGF2R	es
dc.subject	Bovine	es
dc.subject	Reproductive fluids	es
dc.subject	Assisted reproductive technologies	es
dc.title	Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome	es
dc.type	info:eu-repo/semantics/article	es
dspace.entity.type	Publication	es