The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription

Nat Genet. 1995 Mar;9(3):293-8. doi: 10.1038/ng0395-293.


Genetic susceptibility to insulin-dependent diabetes mellitus (IDDM) is inherited as a polygenic trait. One of the loci implicated in IDDM is a polymorphic minisatellite 5' of the human insulin (INS) gene on chromosome 11. This insulin-linked polymorphic region (ILPR) is composed of tandemly repeated sequences, which fall into three size classes: IDDM is strongly associated with short ILPR alleles. We now show that the ILPR is capable of transducing a transcriptional signal in pancreatic beta-cells, with a long ILPR possessing greater activity than a short ILPR. The ILPR contains numerous high-affinity binding sites for the transcription factor Pur-1, and transcriptional activation by Pur-1 is modulated by naturally occurring sequences in the ILPR. Our results demonstrate a possible function for this unique minisatellite, which may have implications for type 1 diabetes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 11
  • DNA, Satellite / genetics
  • DNA-Binding Proteins
  • Diabetes Mellitus, Type 1 / genetics*
  • Genetic Linkage
  • Humans
  • Insulin / genetics*
  • Islets of Langerhans / metabolism
  • Minisatellite Repeats
  • Molecular Sequence Data
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • Transcription Factors / metabolism
  • Transcription, Genetic


  • DNA, Satellite
  • DNA-Binding Proteins
  • Insulin
  • Transcription Factors
  • c-MYC-associated zinc finger protein