Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.

doi:10.1371/journal.pgen.1007243

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Article

Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.

PLoS genetics - 1 Feb 2018

Freschi Andrea, Hur Stella K, Valente Federica Maria, Ideraabdullah Folami Y, Sparago Angela, Gentile Maria Teresa, Oneglia Andrea, Di Nucci Diego, Colucci-D'Amato Luca, Thorvaldsen Joanne L, Bartolomei Marisa S, Riccio Andrea, Cerrato Flavia

Abstract excerpt

Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 Imprinting Control region (IC1) result in these diseases are undefined. To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and...

Topics

Animals
Cells, Cultured
Female
Genomic Imprinting
Growth Disorders
Humans
Insulin-Like Growth Factor II
Male
Mice
Mice, Inbred BALB C

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice, Inbred C57BL

Mice, Transgenic

Mosaicism

Mouse Embryonic Stem Cells

Mutation

Organ Specificity

Phenotype

Pregnancy

Source

Open in PubMed Open full text

Identifiers

PMID: 29470501
DOI: 10.1371/journal.pgen.1007243
PMCID: PMC5839592

Genes

IGF2

Provenance

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