Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes

Peter Rotwein, Rose Chyn, John Chirgwin, Barbara Cordell, Howard M. Goodman, M. Alan Permutt

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

The arrangement of the human insulin gene in DNA from 87 individuals was analyzed by the Southern blot hybridization technique with a cloned genomic human insulin probe. Insertions of 1.5 to 3.4 kilobase pairs in the 5′-flanking region of the gene were found in DNA from 38 individuals. These insertions occurred within 1.3 kilobase pairs of the transcription initiation site. In contrast, no insertions were observed in the region 3′ to the coding sequence. The prevalence of these insertions in type 2 diabetes was significantly greater than in the other groups (P <.001). The limitation of this striking length polymorphism to a potential promoter region suggests that these insertions may play a role in insulin gene expression.

Original languageEnglish (US)
Pages (from-to)1120-1122
Number of pages3
JournalScience
Volume213
Issue number4512
StatePublished - 1981
Externally publishedYes

Fingerprint

5' Flanking Region
Type 2 Diabetes Mellitus
Insulin
Genes
Transcription Initiation Site
DNA
Southern Blotting
Genetic Promoter Regions
Gene Expression

ASJC Scopus subject areas

  • General

Cite this

Rotwein, P., Chyn, R., Chirgwin, J., Cordell, B., Goodman, H. M., & Alan Permutt, M. (1981). Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science, 213(4512), 1120-1122.

Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes. / Rotwein, Peter; Chyn, Rose; Chirgwin, John; Cordell, Barbara; Goodman, Howard M.; Alan Permutt, M.

In: Science, Vol. 213, No. 4512, 1981, p. 1120-1122.

Research output: Contribution to journalArticle

Rotwein, P, Chyn, R, Chirgwin, J, Cordell, B, Goodman, HM & Alan Permutt, M 1981, 'Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes', Science, vol. 213, no. 4512, pp. 1120-1122.
Rotwein P, Chyn R, Chirgwin J, Cordell B, Goodman HM, Alan Permutt M. Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes. Science. 1981;213(4512):1120-1122.
Rotwein, Peter ; Chyn, Rose ; Chirgwin, John ; Cordell, Barbara ; Goodman, Howard M. ; Alan Permutt, M. / Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes. In: Science. 1981 ; Vol. 213, No. 4512. pp. 1120-1122.
@article{6dd61b77ef054732a16066c7243fa072,
title = "Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes",
abstract = "The arrangement of the human insulin gene in DNA from 87 individuals was analyzed by the Southern blot hybridization technique with a cloned genomic human insulin probe. Insertions of 1.5 to 3.4 kilobase pairs in the 5′-flanking region of the gene were found in DNA from 38 individuals. These insertions occurred within 1.3 kilobase pairs of the transcription initiation site. In contrast, no insertions were observed in the region 3′ to the coding sequence. The prevalence of these insertions in type 2 diabetes was significantly greater than in the other groups (P <.001). The limitation of this striking length polymorphism to a potential promoter region suggests that these insertions may play a role in insulin gene expression.",
author = "Peter Rotwein and Rose Chyn and John Chirgwin and Barbara Cordell and Goodman, {Howard M.} and {Alan Permutt}, M.",
year = "1981",
language = "English (US)",
volume = "213",
pages = "1120--1122",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "4512",

}

TY - JOUR

T1 - Polymorphism in the 5′-flanking region of the human insulin gene and its possible relation to type 2 diabetes

AU - Rotwein, Peter

AU - Chyn, Rose

AU - Chirgwin, John

AU - Cordell, Barbara

AU - Goodman, Howard M.

AU - Alan Permutt, M.

PY - 1981

Y1 - 1981

N2 - The arrangement of the human insulin gene in DNA from 87 individuals was analyzed by the Southern blot hybridization technique with a cloned genomic human insulin probe. Insertions of 1.5 to 3.4 kilobase pairs in the 5′-flanking region of the gene were found in DNA from 38 individuals. These insertions occurred within 1.3 kilobase pairs of the transcription initiation site. In contrast, no insertions were observed in the region 3′ to the coding sequence. The prevalence of these insertions in type 2 diabetes was significantly greater than in the other groups (P <.001). The limitation of this striking length polymorphism to a potential promoter region suggests that these insertions may play a role in insulin gene expression.

AB - The arrangement of the human insulin gene in DNA from 87 individuals was analyzed by the Southern blot hybridization technique with a cloned genomic human insulin probe. Insertions of 1.5 to 3.4 kilobase pairs in the 5′-flanking region of the gene were found in DNA from 38 individuals. These insertions occurred within 1.3 kilobase pairs of the transcription initiation site. In contrast, no insertions were observed in the region 3′ to the coding sequence. The prevalence of these insertions in type 2 diabetes was significantly greater than in the other groups (P <.001). The limitation of this striking length polymorphism to a potential promoter region suggests that these insertions may play a role in insulin gene expression.

UR - http://www.scopus.com/inward/record.url?scp=37049186659&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=37049186659&partnerID=8YFLogxK

M3 - Article

VL - 213

SP - 1120

EP - 1122

JO - Science

JF - Science

SN - 0036-8075

IS - 4512

ER -