title: Chromosomal mapping and expression of the human B120 gene.
abstract: We previously reported a novel human cDNA, designated B120, containing a CAG repeat length polymorphism and many repeat units, loosely identified as YXQQP which is found in several human RNA binding proteins. In the present study, the B120 gene was mapped to human chromosome 1p35-36.1 by fluorescence in situ hybridization (FISH). Several human disorders, including that of Schnyder crystalline corneal dystrophy, have been mapped to this region by genetic linkage. Schnyder crystalline corneal dystrophy is thought to be a primary abnormality of corneal lipid metabolism, resulting in opacification secondary to lipid accumulation. In order to examine the function of B120, we introduced B120 cDNA with an expression vector into various cell lines including Cos1, C3H/10T1/2 and NIH/3T3 cells. These transfected cells exhibited small cytoplasmic spherical bodies. The cytoplasmic bodies appeared to be fat droplets on electron microscopy and histochemical staining. These findings suggested that B120 gene expression is associated with lipid metabolism, and that overexpression of B120 may result in lipid deposition in various cells, including those of fibroblastic cell lines. Since the cornea is composed of fibroblastic cells, overfunction of B120 could be related to the pathogenesis of Schnyder crystalline corneal dystrophy.
authors.affiliation: Department of Pathology, Kochi Medical School, Okochou, Nankoku, Kochi 783, Japan. Takeutit@med.kochi-ms.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Takeuchi
authors.forename: M
authors.initials: M
authors.lastname: Furihata
authors.forename: H H
authors.initials: HH
authors.lastname: Heng
authors.forename: H
authors.initials: H
authors.lastname: Sonobe
authors.forename: Y
authors.initials: Y
authors.lastname: Ohtsuki
mesh_terms: D016475:3T3 Cells; D000818:Animals; D019556:COS Cells; D002460:Cell Line; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins; D005136:Eye Proteins / Q000235:genetics / Q000502:physiology; D005347:Fibroblasts / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D002479:Inclusion Bodies / Q000235:genetics; D050356:Lipid Metabolism; D051379:Mice; D009687:Nuclear Proteins; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D011993:Recombinant Fusion Proteins / Q000378:metabolism; D014157:Transcription Factors; D014162:Transfection; D018911:Trinucleotide Repeats
chemical_list: C112476:ARID1A protein, human; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D005136:Eye Proteins; D009687:Nuclear Proteins; D011506:Proteins; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors