Transactivation of Igf2 in a mouse model of Beckwith–Wiedemann syndrome

Fang-Lin Sun, Wendy L. Dean, Gavin Kelsey, Nicholas D. Allen and Wolf Reik ()
Additional contact information
Fang-Lin Sun: Laboratory of Developmental Genetics and Imprinting
Wendy L. Dean: Laboratory of Developmental Genetics and Imprinting
Gavin Kelsey: Laboratory of Developmental Genetics and Imprinting
Nicholas D. Allen: Laboratory of Developmental Neurobiology, The Babraham Institute
Wolf Reik: Laboratory of Developmental Genetics and Imprinting

Nature, 1997, vol. 389, issue 6653, 809-815

Abstract: Abstract The gene IGF2, which encodes a fetal insulin-like growth factor, is imprinted, so only one of two parental copies of the gene is expressed. The altered expression of IGF2 has been implicated in Beckwith–Wiedemann syndrome, a human fetal overgrowth syndrome, which is characterized by overgrowth of several organs and an increased risk of developing childhood tumours. We have introduced Igf2 transgenes into the mouse genome by using embryonic stem cells, which leads to transactivation of the endogenous Igf2 gene. The consequent overexpression of Igf2 results in most of the symptoms of Beckwith–Wiedemann syndrome, including prenatal overgrowth, polyhydramnios, fetal and neonatal lethality, disproportionate organ overgrowth including tongue enlargement, and skeletal abnormalities. These phenotypes establish Igf2 overexpression as a key determinant of Beckwith–Wiedemann syndrome.

Date: 1997
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/39797 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:389:y:1997:i:6653:d:10.1038_39797

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/39797

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().