Taxon:

Human

Gene:

IGF2R (M6PR) (disputed)

Chromosome:

06

Location:

6q25.3, 160 Mb (GRCh37)

Description:

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 (Smrzka OW et al, 1995; Riesewijk AM et al, 1996).
Braidotti 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 some situations.
In contrast, in a study of 7 placentas, 46 conceptuses and 7 Wilms tumours, Killian found no evidence of imprinting (Killian 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.

McCann 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.

Category:

Other

Record:

13

Last Modified 3/12/2015

Links:

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