Analysis of the Coding and Promoter Regions of the Autoantigen IA-2 in Subjects with and Without Autoantibodies to IA-2

Tao Cai, Jingping Xie, Jin-Xiong She, Abner Louis Notkins

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Despite extensive studies on HLA polymorphism, there have been few, if any, studies on allelic forms or mutations in proteins that serve as autoantigens. The present experiments were designed to look for alterations in the coding and promoter regions of the autoantigen IA-2 in type one (insulin-dependent) diabetic patients with autoantibodies to IA-2 as compared with siblings without diabetes or autoantibodies to IA-2. Genomic DNA was used as a template and was amplified by polymerase chain reaction, with pairs of primers encompassing the promoter region and the 23 exons of the coding region of IA-2. A total of nine nucleotide changes were found in the coding region of the six type 1 diabetic patients; four were silent and five were missense changes, but all occurred in the extracellular domain of IA-2 to which autoantibodies are not directed. Few, if any, changes were found in the 5′ upstream (-706 to +135) promoter region. The results of the experiments support the null hypothesis that differences among individuals in the nucleotide and amino acid sequences of the promoter and coding regions of IA-2, respectively, do not account for why some individuals develop autoantibodies to IA-2 and others do not.

Original languageEnglish (US)
Pages (from-to)2406-2409
Number of pages4
JournalDiabetes
Volume50
Issue number10
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

Fingerprint

Autoantigens
Genetic Promoter Regions
Nucleotides
Individuality
Autoantibodies
Siblings
Amino Acid Sequence
Exons
Insulin
Polymerase Chain Reaction
Mutation
ICA512 autoantibody
DNA
Proteins

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Analysis of the Coding and Promoter Regions of the Autoantigen IA-2 in Subjects with and Without Autoantibodies to IA-2. / Cai, Tao; Xie, Jingping; She, Jin-Xiong; Notkins, Abner Louis.

In: Diabetes, Vol. 50, No. 10, 01.01.2001, p. 2406-2409.

Research output: Contribution to journalArticle

Cai, Tao ; Xie, Jingping ; She, Jin-Xiong ; Notkins, Abner Louis. / Analysis of the Coding and Promoter Regions of the Autoantigen IA-2 in Subjects with and Without Autoantibodies to IA-2. In: Diabetes. 2001 ; Vol. 50, No. 10. pp. 2406-2409.
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