title: 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).
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.
authors.affiliation: Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, (IMBG, 24.4), The Panum Institute, University of Copenhagen, Blegdamsvej 3, Denmark. zeynep@imbg.ku.dk
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Peter J P
authors.initials: PJ
authors.lastname: Croucher
authors.forename: Lars Riff
authors.initials: LR
authors.lastname: Jensen
authors.forename: Jochen
authors.initials: J
authors.lastname: Hampe
authors.forename: Claus
authors.initials: C
authors.lastname: Hansen
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
authors.forename: Hans Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Niels
authors.initials: N
authors.lastname: Tommerup
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
mesh_terms: D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D015870:Gene Expression; D005796:Genes / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D007438:Introns; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: C114228:AVIL protein, human; D008840:Microfilament Proteins; D012333:RNA, Messenger