The prevalence of loss of imprinting of H19 and IGF2 at birth.
FASEB J
; 27(8): 3335-43, 2013 Aug.
Article
en En
| MEDLINE
| ID: mdl-23620526
ABSTRACT
Imprinted genes are monoallelically expressed according to the parent of origin and are critical for proper placental and embryonic development. Disruption of methylation patterns at imprinted loci resulting in loss of imprinting (LOI) may lead to serious imprinting disorders (e.g., Beckwith-Wiedemann syndrome) and is described in some cancers (e.g., Wilms' tumor). As most research has focused on children with cancer or other abnormal phenotypes, the imprinting status in healthy infants at birth has not been characterized. We examined the prevalence of H19 and IGF2 LOI at birth by allele-specific expression assays analysis on 114 human individuals. Overall expression and methylation analyses were performed on a subset of samples. We found that LOI of H19 was observed for 4% of individuals in cord blood and 3.3% in placenta, and for IGF2 of 22% of individuals in the cord blood and 0% in placenta. Interestingly, LOI status did not correspond to aberrant methylation levels of the imprinted DMRs or with changes in overall gene expression for the majority of individuals. Our observations suggest that LOI is present in phenotypically healthy infants. Determining a "normal" human epigenotype range is important for discovering factors required to maintain a healthy pregnancy and embryonic development.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Factor II del Crecimiento Similar a la Insulina
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Expresión Génica
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Impresión Genómica
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ARN Largo no Codificante
Tipo de estudio:
Prevalence_studies
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Risk_factors_studies
Límite:
Adult
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Female
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Humans
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Male
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Newborn
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Pregnancy
Idioma:
En
Revista:
FASEB J
Asunto de la revista:
BIOLOGIA
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FISIOLOGIA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Estados Unidos