Abstract:
BACKGROUND:Genomic imprinting is a process causing genes to be expressed according to parental origin. Imprinting acts to coordinate fetal and prenatal growth, as well as control postnatal adaptations. Studies on human imprinting are confounded by tissue availability, sampling variability and limitations posed by tissue-specific expression and cellular heterogeneity within tissues. The human umbilical cord is an easily available, embryonic-derived fetal tissue with the potential to overcome many of these limitations. METHODS:In a sensitive, gene-specific quantitative expression analysis, we show for the first time robust imprinted gene expression combined with methylation analysis in cords isolated from Asian Chinese full-term births. RESULTS:Linear regression analyses revealed an inverse correlation between expression of pleckstrin homology-like domain, family A, member 2 (PHLDA2) with birth weight (BW). Furthermore, we observed significant down-regulation of the paternally expressed gene 10 (PEG10) in low BW babies compared to optimum BW babies. This change in PEG10 gene expression was accompanied by concomitant methylation alterations at the PEG10 promoter. CONCLUSIONS:These data are the first to demonstrate relative expression of an imprinted gene associated with epigenetic changes in non-syndromic fetal growth restriction in babies. They show that perturbed expression in compromised fetal growth may be associated with in utero modulation of the epigenetic state at the imprinting control regions and implicate specific imprinted genes as new biomarkers of fetal growth.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Lim AL,Ng S,Leow SC,Choo R,Ito M,Chan YH,Goh SK,Tng E,Kwek K,Chong YS,Gluckman PD,Ferguson-Smith ACdoi
10.1136/jmedgenet-2012-100858subject
Has Abstractpub_date
2012-11-01 00:00:00pages
689-97issue
11eissn
0022-2593issn
1468-6244pii
jmedgenet-2012-100858journal_volume
49pub_type
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