title: Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin.
abstract: A group of cDNAs isolated from a subtractive ciliary body library of a normal human eye donor revealed 100% identity with TIGR a candidate gene responsible for juvenile open zangle glaucoma [Science 275 (1997) 668-670]. Several structural features of the deduced human protein have been noted: a cleavable N-terminal signal peptide, a periodic repetition at the N-terminus of leucine and arginine residues at every seventh and eleven position respectively in helix conformation (leucine zipper-like motif) exhibiting homology with myosin, and with olfactomedin in the C-terminus. The mRNA for TIGR is abundantly expressed in the ciliary body, iris, heart and skeletal muscle.
authors.affiliation: Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT 06510, USA.
authors.forename: J
authors.initials: J
authors.lastname: Ortego
authors.forename: J
authors.initials: J
authors.lastname: Escribano
authors.forename: M
authors.initials: M
authors.lastname: Coca-Prados
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002924:Ciliary Body / Q000737:chemistry / Q000502:physiology*; D003001:Cloning, Molecular; D003598:Cytoskeletal Proteins; D018076:DNA, Complementary / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005123:Eye / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D015723:Gene Library; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009218:Myosins / Q000235:genetics; D009928:Organ Specificity; D012333:RNA, Messenger / Q000032:analysis; D017386:Sequence Homology, Amino Acid; D012689:Sequence Homology, Nucleic Acid; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D009218:Myosins; D012333:RNA, Messenger; D000099179:Myocilin; C081451:olfactomedin