Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire)

Jing Da Shi, Cong Yi Wang, Michele P. Marron, Qing Guo Ruan, Yi Qun Huang, John C. Detter, Jin-Xiong She

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We have recently cloned the murine autoimmune regulator (Aire) gene, the homologue of human AIRE responsible for the autoimmune polyglandular syndrome type 1 (APS1) or autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). Here, we report the genomic sequence (18413 bp) for the entire Aire gene and its 5′ flanking region, which contains putative regulatory sequences. Comparison of the genomic and cDNA sequences indicates that the Aire gene is composed of 14 exons and the coding sequence shares high similarities between mouse and human. The sizes of the homologous introns in the two species are conserved; however, the introns do not share significant sequence homologies except the sequences near the splice donor and acceptor sites. Sequence analyses of the 5′ regulatory region and the complete coding region in three mouse strains (B6, NOD and SJL) did not reveal any sequence variation, suggesting sequence conservation between different inbred mouse strains. Using one of the six microsatellite markers identified by genomic sequencing and a B6 × Cast backcross mapping panel, we mapped the mouse Aire gene to chromosome 10, a syntenic region containing the Cd18 and Pfkl genes on human chromosome 21q22.

Original languageEnglish (US)
Pages (from-to)47-53
Number of pages7
JournalAutoimmunity
Volume31
Issue number1
DOIs
StatePublished - Jan 1 1999
Externally publishedYes

Fingerprint

Regulator Genes
Autoimmune Polyendocrinopathies
RNA Splice Sites
Introns
Genes
Chromosomes, Human, Pair 10
Inbred Strains Mice
5' Flanking Region
Nucleic Acid Regulatory Sequences
Human Chromosomes
Sequence Homology
Microsatellite Repeats
Sequence Analysis
Exons
Complementary DNA

Keywords

  • APECED
  • APS
  • Autoimmunity
  • Gene mapping

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire). / Shi, Jing Da; Wang, Cong Yi; Marron, Michele P.; Ruan, Qing Guo; Huang, Yi Qun; Detter, John C.; She, Jin-Xiong.

In: Autoimmunity, Vol. 31, No. 1, 01.01.1999, p. 47-53.

Research output: Contribution to journalArticle

Shi, Jing Da ; Wang, Cong Yi ; Marron, Michele P. ; Ruan, Qing Guo ; Huang, Yi Qun ; Detter, John C. ; She, Jin-Xiong. / Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire). In: Autoimmunity. 1999 ; Vol. 31, No. 1. pp. 47-53.
@article{fc6b7886ed22473bb90f34631bd70d92,
title = "Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire)",
abstract = "We have recently cloned the murine autoimmune regulator (Aire) gene, the homologue of human AIRE responsible for the autoimmune polyglandular syndrome type 1 (APS1) or autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). Here, we report the genomic sequence (18413 bp) for the entire Aire gene and its 5′ flanking region, which contains putative regulatory sequences. Comparison of the genomic and cDNA sequences indicates that the Aire gene is composed of 14 exons and the coding sequence shares high similarities between mouse and human. The sizes of the homologous introns in the two species are conserved; however, the introns do not share significant sequence homologies except the sequences near the splice donor and acceptor sites. Sequence analyses of the 5′ regulatory region and the complete coding region in three mouse strains (B6, NOD and SJL) did not reveal any sequence variation, suggesting sequence conservation between different inbred mouse strains. Using one of the six microsatellite markers identified by genomic sequencing and a B6 × Cast backcross mapping panel, we mapped the mouse Aire gene to chromosome 10, a syntenic region containing the Cd18 and Pfkl genes on human chromosome 21q22.",
keywords = "APECED, APS, Autoimmunity, Gene mapping",
author = "Shi, {Jing Da} and Wang, {Cong Yi} and Marron, {Michele P.} and Ruan, {Qing Guo} and Huang, {Yi Qun} and Detter, {John C.} and Jin-Xiong She",
year = "1999",
month = "1",
day = "1",
doi = "10.3109/08916939908993859",
language = "English (US)",
volume = "31",
pages = "47--53",
journal = "Autoimmunity",
issn = "0891-6934",
publisher = "Informa Healthcare",
number = "1",

}

TY - JOUR

T1 - Chromosomal localization and complete genomic sequence of the murine autoimmune regulator gene (Aire)

AU - Shi, Jing Da

AU - Wang, Cong Yi

AU - Marron, Michele P.

AU - Ruan, Qing Guo

AU - Huang, Yi Qun

AU - Detter, John C.

AU - She, Jin-Xiong

PY - 1999/1/1

Y1 - 1999/1/1

N2 - We have recently cloned the murine autoimmune regulator (Aire) gene, the homologue of human AIRE responsible for the autoimmune polyglandular syndrome type 1 (APS1) or autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). Here, we report the genomic sequence (18413 bp) for the entire Aire gene and its 5′ flanking region, which contains putative regulatory sequences. Comparison of the genomic and cDNA sequences indicates that the Aire gene is composed of 14 exons and the coding sequence shares high similarities between mouse and human. The sizes of the homologous introns in the two species are conserved; however, the introns do not share significant sequence homologies except the sequences near the splice donor and acceptor sites. Sequence analyses of the 5′ regulatory region and the complete coding region in three mouse strains (B6, NOD and SJL) did not reveal any sequence variation, suggesting sequence conservation between different inbred mouse strains. Using one of the six microsatellite markers identified by genomic sequencing and a B6 × Cast backcross mapping panel, we mapped the mouse Aire gene to chromosome 10, a syntenic region containing the Cd18 and Pfkl genes on human chromosome 21q22.

AB - We have recently cloned the murine autoimmune regulator (Aire) gene, the homologue of human AIRE responsible for the autoimmune polyglandular syndrome type 1 (APS1) or autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). Here, we report the genomic sequence (18413 bp) for the entire Aire gene and its 5′ flanking region, which contains putative regulatory sequences. Comparison of the genomic and cDNA sequences indicates that the Aire gene is composed of 14 exons and the coding sequence shares high similarities between mouse and human. The sizes of the homologous introns in the two species are conserved; however, the introns do not share significant sequence homologies except the sequences near the splice donor and acceptor sites. Sequence analyses of the 5′ regulatory region and the complete coding region in three mouse strains (B6, NOD and SJL) did not reveal any sequence variation, suggesting sequence conservation between different inbred mouse strains. Using one of the six microsatellite markers identified by genomic sequencing and a B6 × Cast backcross mapping panel, we mapped the mouse Aire gene to chromosome 10, a syntenic region containing the Cd18 and Pfkl genes on human chromosome 21q22.

KW - APECED

KW - APS

KW - Autoimmunity

KW - Gene mapping

UR - http://www.scopus.com/inward/record.url?scp=0033278127&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033278127&partnerID=8YFLogxK

U2 - 10.3109/08916939908993859

DO - 10.3109/08916939908993859

M3 - Article

C2 - 10593569

AN - SCOPUS:0033278127

VL - 31

SP - 47

EP - 53

JO - Autoimmunity

JF - Autoimmunity

SN - 0891-6934

IS - 1

ER -