The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


 

Detailed entry for Gene:

Ins2
INS

Chromosome:

Human Chr11p15.5
Mouse Chr7 (distal)

Links:

OMIM

Imprinting:

The maternal allele of Ins2/INS is repressed; paternal allele active in yolk sacs (and variably in thymus glands) of mice and humans (Deltour L et al, 1995; Duvillie B et al, 1998; Giddings SJ et al, 1994). There is biallelic expression in other tissues, including pancreas (Giddings SJ et al, 1994).

Gene Product:

Insulin is a growth factor and a hormonal regulator of glucose and energy-storage metabolism; there are two insulin genes in mice, but Ins2 is the orthologue of the single human INS gene.

Functional Data:

A large body of work has established insulin as a central metabolic and growth regulator in mammals (Baker J et al, 1993; Yenush L et al, 1997), and deletion of Ins2, together with its homologue Ins1, in mice has the expected consequences of growth retardation and metabolic abnormalities (Duvillie B et al, 1997). A polymorphic VNTR sequence, and an associated regional haplotype, immediately upstream of human INS show genetic linkage to type 1 insulin-dependent diabetes mellitus (IDDM). Although the effects are not absolute, the observed linkages are dependent on parent-of-origin of the alleles, with paternal transmissions accounting for most of the risk associated with the adverse VNTR alleles, see (Bennett ST et al, 1997) and references therein. It has been suggested that the VNTR may control insulin expression in the thymus, thereby affecting the risk of an autoimmune response to insulin (Vafiadis P et al, 1997).

 

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