IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome.
The phenomenon of parental imprinting involves the preferential expression of one parental allele of a subset of chromosomal genes and has so far only been documented in the mouse. We show here, by exploiting sequence polymorphisms in exon nine of the human insulin-like growth factor 2 (IGF2) gene, that only the paternally-inherited allele is active in embryonic and extra-embryonic cells from first trimester pregnancies. In addition, only the paternal allele is expressed in tissues from a patient who suffered from Beckwith-Wiedemann syndrome. Thus the parental imprinting of IGF2 appears to be evolutionarily conserved from mouse to man and has implications for the generation of the Beckwith-Wiedemann syndrome.
Department of Experimental Drug Research, Karolinska Hospital, Stockholm, Sweden.
R
R
Ohlsson
A
A
Nyström
S
S
Pfeifer-Ohlsson
V
V
Töhönen
F
F
Hedborg
P
P
Schofield
F
F
Flam
T J
TJ
Ekström
D000483:Alleles; D000818:Animals; D001483:Base Sequence; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics*; D005314:Embryonic and Fetal Development / Q000235:genetics*; D005786:Gene Expression Regulation; D007335:Insulin-Like Growth Factor II / Q000235:genetics*; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D010290:Parents; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid
D007335:Insulin-Like Growth Factor II