title: Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene.
abstract: Phenotypic parallels and genetic evidence from comparative mapping suggest that the murine Small eye (Sey) and human aniridia (AN) disorders are homologous. This report describes the isolation of a murine embryonic cDNA that is structurally homologous to the AN cDNA were recently cloned. The murine cDNA detects a 2.7-kb transcript in the adult mouse eye and cerebellum and in human glioblastomas, suggesting a neuroectodermal involvement in the etiology of Sey/AN. Sequence comparison between the murine and the human cDNAs revealed extensive homology in nucleotide sequence (greater than 92%) and virtual identity at the amino acid level. None of the differing amino acids was located within the paired box and homeobox DNA-binding domains. These results provide evidence for a common molecular basis underlying the two genetic disorders and suggest that the Sey system would be an authentic model for human AN.
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Texas M. D. Anderson Cancer Center, Houston 77030.
authors.forename: C C
authors.initials: CC
authors.lastname: Ton
authors.forename: H
authors.initials: H
authors.lastname: Miwa
authors.forename: G F
authors.initials: GF
authors.lastname: Saunders
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015783:Aniridia / Q000196:embryology / Q000235:genetics; D001483:Base Sequence; D001921:Brain / Q000254:growth & development / Q000378:metabolism; D016543:Central Nervous System Neoplasms / Q000235:genetics / Q000473:pathology; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D005123:Eye / Q000254:growth & development / Q000378:metabolism; D005124:Eye Abnormalities / Q000235:genetics*; D015870:Gene Expression; D015972:Gene Expression Regulation, Neoplastic; D005804:Genes, Lethal; D006801:Humans; D051379:Mice / Q000235:genetics*; D008969:Molecular Sequence Data; D009432:Neural Crest / Q000378:metabolism; D009666:Nose / Q000002:abnormalities; D009928:Organ Specificity; D012333:RNA, Messenger / Q000096:biosynthesis; D012334:RNA, Neoplasm / Q000096:biosynthesis; D012045:Regulatory Sequences, Nucleic Acid; D012689:Sequence Homology, Nucleic Acid; D014407:Tumor Cells, Cultured / Q000378:metabolism
chemical_list: D012333:RNA, Messenger; D012334:RNA, Neoplasm; D004247:DNA