IGF2R (Insulin-like growth factor II receptor; mannose 6-phosphate receptor, cation independent) is
maternally expressed in several mammalian species but there are conflicting data from humans.
Monk D et al (2006,
supporting Table 1)
found monoallelic expression in 3 of 8 informative term placental samples (maternal expression could
be confirmed in two).
Polymorphic imprinting of IGF2R was previously reported in humans (Polychronakos C, 1993; Xu
Y et al 1993).
Allele specific methylation (methylation of the active maternal allele) is maintained in humans
OW et al, 1995; Riesewijk
AM et al, 1996).
G et al (2004) speculate that the strong CpG island in intron 2 of human IGF2R allows the
possibility of expression of a human IGF2R antisense (AIR) transcript (and thus IGF2R imprinting) in
in a study of 7 placentas, 46 conceptuses and 7 Wilms tumours, Killian found no evidence of
JK et al 2001) in accord with previous studies (Kalscheuer
VM et al 1993).
IGF2R was biallelically expressed in 14 of 14 human embryonic stem cell lines (Kim
KP et al, 2007).
Buckberry S et al (2013) found no evidence
for imprinting of IGF2R in 24 first trimester placentas.
JA et al (2004) found significant transmission distortion at a SNP on exon 16 of IGF2R for type
1 diabetes, and this association was limited to maternally inherited alleles.