title: The chicken CP49 gene contains an extra exon compared to the human CP49 gene which identifies an important step in the evolution of the eye lens intermediate filament proteins.
abstract: The gene structure for chicken CP49 gene is presented. It differs from the human CP49 gene with the presence of an extra exon in helix IB and the apparent loss of an intron, intron H. The CP49 gene localises to chromosome 2 in the chicken genome where it is flanked by homologues that map to human chromosome 10p13 (VIM) 6p24-p23 (BMP6). Two transcripts, CP49 and CP49ins, are produced from the single chicken CP49 gene. The difference is a 49-amino-acid insertion in helix IB of CP49 that is encoded by a novel exon found in the chicken CP49 gene. An extended helix IB is believed to be a characteristic of the ancestral intermediate filament protein as it is found in many invertebrate intermediate filament proteins but has been lost from all vertebrate intermediate filament proteins except the nuclear lamins. Although the intron position and length of the helix IB insert sequences in CP49ins differ to those found both in the invertebrate intermediate filament proteins and the vertebrate lamins, the CP49 gene is the first vertebrate cytoplasmic intermediate filament protein to be described with an extended helix IB. The chicken CP49 gene is also the first where differential splicing can remove such a feature. Human and bovine CP49 appear to have lost the helix IB insert sequences, and so the avian CP49 gene provides an interesting evolutionary link between the eye lens proteins and the ancestral intermediate filament protein.
authors.affiliation: Department of Biochemistry, The University of Dundee, Dundee, DD1 4HN, UK.
authors.forename: P
authors.initials: P
authors.lastname: Wallace
authors.forename: E
authors.initials: E
authors.lastname: Signer
authors.forename: I R
authors.initials: IR
authors.lastname: Paton
authors.forename: D
authors.initials: D
authors.lastname: Burt
authors.forename: R
authors.initials: R
authors.lastname: Quinlan
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002645:Chickens; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D017124:Conserved Sequence / Q000235:genetics; D003459:Crystallins / Q000737:chemistry*; D019143:Evolution, Molecular; D005136:Eye Proteins / Q000737:chemistry*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000737:chemistry*; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D003459:Crystallins; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; C084808:phakinin