title: Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene.
abstract: Conductin is a Wnt signalling protein and serves as a negative regulator of beta-catenin stability. We have previously isolated the human homolog (AXIN2) of the murine conductin gene and shown that it is mutated in colorectal cancer (CRC) with defective mismatch repair (MMR). Here we report the detailed genomic structure of this gene by analysis of cDNA and genomic clones. The gene spans > or =25 kb containing ten exons ranging from 96 bp to 904 bp. All splice donor and acceptor sites conform to the GT/AG rule. FISH (Fluorescence in situ Hybridization) analysis localized this gene to human chromosome band 17q24 and showed that it exists as a single copy in the human genome. Northern blot analysis from different human organs demonstrated that the AXIN2 gene is highly expressed in human thymus, prostate, testis, small intestine and ovarian tissues but expressed at a lower level in colon. The data reported here provides a framework for further analysis of this important Wnt signalling protein in vertebrate development and tumorigenesis.
authors.affiliation: Division of Experimental Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic and Medical School, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: X
authors.initials: X
authors.lastname: Dong
authors.forename: R S
authors.initials: RS
authors.lastname: Seelan
authors.forename: C
authors.initials: C
authors.lastname: Qian
authors.forename: M
authors.initials: M
authors.lastname: Mai
authors.forename: W
authors.initials: W
authors.lastname: Liu
mesh_terms: D060466:Axin Protein; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003001:Cloning, Molecular; D015179:Colorectal Neoplasms / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D018628:Gene Dosage; D020869:Gene Expression Profiling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns / Q000235:genetics*; D020161:Physical Chromosome Mapping; D011518:Proto-Oncogene Proteins / Q000502:physiology; D022821:RNA Splice Sites / Q000235:genetics; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D051153:Wnt Proteins; D029961:Zebrafish Proteins
chemical_list: C491761:AXIN2 protein, human; D060466:Axin Protein; D003598:Cytoskeletal Proteins; D011518:Proto-Oncogene Proteins; D022821:RNA Splice Sites; D012333:RNA, Messenger; D051153:Wnt Proteins; D029961:Zebrafish Proteins