Taxon:

Human

Gene:

INS, insulin

Chromosome:

11

Location:

11p15.5 (03)

Description:

Monoallelic expression of INS was observed in six human yolk sacs and in two the expressed allele could be identified as paternal (Moore GE et al, 2001). Ins2 (the mouse orthologue) is paternally expressed in mouse yolk sac, but not imprinted in human or mouse pancreas (Giddings SJ et al, 1994; Bennett ST et al, 1995). Insulin has been suspected to be imprinted in humans since the susceptibility to Type 1 diabetes may be influenced by the parent-of-origin of insulin alleles, but the mechanism of this effect is unclear (Bennett ST et al, 1996; Bennett ST et al, 1996; Bennett ST et al, 1997; Polychronakos C, et al, 1995; Margaritte- Jeannin P et al, 1995; Huxtable SJ et al, 2000). Paternal transmission of the Class I insulin VNTR allele predisposes to childhood obesity (Le Stunff C et al, 2001). Osada et al, 2007 investigated the genotypes of two polymorphic loci; -23HphI and HUMTH01 in Japanese mothers and their neonates. These polymorphic loci are in linkage disequilibrium with the INS-VNTR class III allele. Osada et al, 2007 found that the paternally transmitted -23HphI allele was exclusively correlated with increased size at birth.

Category:

Imprinted genes

Record:

27

Last Modified 11/1/2015

Links:

OMIM    Unigene   Gene  


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