Journal
THERIOGENOLOGY
Volume 173, Issue -, Pages 193-201Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.theriogenology.2021.08.005
Keywords
Genomic imprinting; Abnormal offspring syndrome; Multi-locus methylation defects; Beckwith-Wiedemann; Multi-locus imprinting disturbances
Categories
Funding
- FAPERJ [E-26/111.604/2010, E-26/203.551/2015]
- FAPERJ/UENF
- CAPES
Ask authors/readers for more resources
In vitro fertilization and somatic cell nuclear transfer are commonly used assisted reproduction technologies in humans and cattle, which can lead to imprinting disorders in offspring like LOS/AOS and BWS. The etiology of these syndromes mainly involves disruptions in genomic imprinting, resulting in loss of imprinting (LOI).
In vitro fertilization and somatic cell nuclear transfer are assisted reproduction technologies commonly used in humans and cattle, respectively. Despite advances in these technologies, molecular failures can occur, increasing the chance of the onset of imprinting disorders in the offspring. Large offspring syndrome/abnormal offspring syndrome (LOS/AOS) has been described in cattle and has features such as hypergrowth, malformation of organs, and skeletal and placental defects. In humans, Beckwith Wiedemann syndrome (BWS) has phenotypic characteristics similar to those found in LOS/AOS. In both syndromes, disruption of genomic imprinting associated with loss of parental-specific expression and parental-specific epigenetic marks is involved in the molecular etiology. Changes in the imprinting pattern of these genes lead to loss of imprinting (LOI) due to gain or loss of methylation, inducing the emergence of these syndromes. Several studies have reported locus-specific alterations in these syndromes, such as hypomethylation in imprinting control region 2 (KvDMR1) in BWS and LOS/AOS. These LOI events can occur at multiple imprinted loci in the same affected individual, which are called multi locus methylation defect (MLMD) events. Although the bovine species has been proposed as a developmental model for human imprinting disorders, there is little information on bovine imprinted genes in the literature, even the correlation of epimutation data with clinical characteristics. In this study, we performed a systematic review of all the multi-locus LOI events described in human BWS and LOS/AOS, in order to determine in which imprinted genes the largest changes in the pattern of DNA methylation and expression occur, helping to fill gaps for a better understanding of the etiology of both syndromes. (c) 2021 Elsevier Inc. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available