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  Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2)

Tümer, Z., Croucher, P. J. P., Jensen, L. R., Hampe, J., Hansen, C., Kalscheuer, V., et al. (2002). Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2). Gene, 288(1-2), 179-185.

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 Creators:
Tümer, Zeynep, Author
Croucher, Peter J. P., Author
Jensen, Lars Riff1, Author              
Hampe, Jochen, Author
Hansen, Claus, Author
Kalscheuer, Vera2, Author              
Ropers, Hans Hilger3, Author              
Tommerup, Niels, Author
Schreiber, Stefan, Author
Affiliations:
1Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
3Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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Free keywords: Avil gene; Crohn's disease; Inflammatory bowel disease; Locus for inflammatory bowel disease at 12q13–14; Real time reverse transcriptase-polymerase chain reaction; Ulcerative colitis
 Abstract: Chronic inflammatory bowel disease is a multifactorial disorder with two major clinical forms, Crohn's disease and ulcerative colitis. One of the potential susceptibility loci for inflammatory bowel disease (IBD2) was localized at 12q13–14 in the vicinity of the deoxyribonucleic acid marker D12S83 by linkage analysis. A candidate susceptibility gene for IBD2 in this region is the AVIL gene. AVIL encodes a protein (advillin) which belongs to the gelsolin/villin family of proteins and might therefore be involved in morphogenesis of microvilli. We have determined the genomic organization of the AVIL gene, including the transcription start site and its localization with respect to D12S83. The 2457 bp coding region of AVIL consists of 19 exons and is localized to 12q14 proximal to D12S83. Primer extension analysis suggests two transcription start sites localized at -548 and -664 bp upstream to the ATG translation codon. We have evaluated AVIL as a candidate susceptibility gene for IBD2 in 24 unrelated patients with evidence of linkage to chromosome 12, as well as in 91 individuals from 19 affected IBD families for putative single nucleotide polymorphisms.

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Language(s): eng - English
 Dates: 2002-03-12
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 24266
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Title: Gene
Source Genre: Journal
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Pages: - Volume / Issue: 288 (1-2) Sequence Number: - Start / End Page: 179 - 185 Identifier: -