Isolation and characterization of a processed gene for human ceruloplasmin

Journal Article · Mon Nov 30 23:00:00 EST 1987 · Biochemistry; (United States)

DOI:https://doi.org/10.1021/bi00398a034· OSTI ID:5301926

Koschinsky, M L; Chow, B K.C.; Schwartz, J; Hamerton, J L; MacGillivray, R T.A.

A processed pseudogene for human ceruloplasmin has been isolated that contains DNA corresponding to the functional gene sequence encoding the carboxy-terminal 563 amino acid residues and the 3' untranslated region. The pseudogene appears to have arisen from a processed RNA species, since intervening sequences coincident with those of the functional gene have been removed, with the exception of a short segment of intronic sequence which denotes the 5' boundary of the pseudogene. The nucleotide sequence of the pseudogene is highly homologous (97% sequence identity) with that of the wild-type gene, suggesting that pseudogene formation was a relatively recent evolutionary event. In addition to single base substitutions, there is a large 213 base pair (bp) deletion in the pseudogene sequence which corresponds to the location of an intron-exon junction in the functional gene. A 4 bp duplication that occurs at amino acid residue 683 of the wild-type coding sequence results in a frameshift mutation and introduces a premature translational termination codon at this point. This is concordant with the inability to detect a human liver transcript corresponding to the pseudogene by nuclease S1 mapping analysis. The 3' end of the pseudogene is characterized by a 62 bp segment composed mainly of repeated TC dinucleotides. On the basis of genomic Southern blot analysis performed under high-stringency conditions, the pseudogene that the authors have identified seems to comprise the only sequence in the human genome that is closely related to the wild-type gene. Using somatic cell hybridization, they have mapped the pseudogene to human chromosome 8. This differs from the site of the wild-type ceruloplasmin locus, which has been assigned to chromosome 3.

• Research Organization: Univ. of British Columbia, Vancouver
• OSTI ID: 5301926
• Journal Information: Biochemistry; (United States), Journal Name: Biochemistry; (United States) Vol. 26:24; ISSN BICHA
• Country of Publication: United States
• Language: English

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59 BASIC BIOLOGICAL SCIENCES
62 RADIOLOGY AND NUCLEAR MEDICINE
AUTORADIOGRAPHY
BACTERIOPHAGES
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
BIOLOGICAL EVOLUTION
BODY
CERULOPLASMIN
CHROMOSOMES
COMPLEXES
COPPER COMPLEXES
DAYS LIVING RADIOISOTOPES
DIGESTIVE SYSTEM
DNA
DNA SEQUENCING
GENES
GENETIC MAPPING
GLANDS
GLOBULINS
GLOBULINS-ALPHA
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
LIVER
MAPPING
METALLOPROTEINS
MICROORGANISMS
NUCLEI
NUCLEIC ACIDS
NUCLEOTIDES
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
ORGANS
PARASITES
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
PROTEINS
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS
TRANSITION ELEMENT COMPLEXES
VIRUSES