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Article: Isolation and characterization of a processed gene for human ceruloplasmin

TitleIsolation and characterization of a processed gene for human ceruloplasmin
Authors
Issue Date1987
PublisherAmerican Chemical Society. The Journal's web site is located at http://pubs.acs.org/biochemistry
Citation
Biochemistry, 1987, v. 26 n. 24, p. 7760-7767 How to Cite?
AbstractA 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 we 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, we 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. © 1987 American Chemical Society.
Persistent Identifierhttp://hdl.handle.net/10722/178460
ISSN
2015 Impact Factor: 2.876
2015 SCImago Journal Rankings: 1.769
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKoschinsky, MLen_US
dc.contributor.authorChow, BKCen_US
dc.contributor.authorSchwartz, Jen_US
dc.contributor.authorHamerton, JLen_US
dc.contributor.authorMacgillivray, RTAen_US
dc.date.accessioned2012-12-19T09:47:49Z-
dc.date.available2012-12-19T09:47:49Z-
dc.date.issued1987en_US
dc.identifier.citationBiochemistry, 1987, v. 26 n. 24, p. 7760-7767en_US
dc.identifier.issn0006-2960en_US
dc.identifier.urihttp://hdl.handle.net/10722/178460-
dc.description.abstractA 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 we 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, we 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. © 1987 American Chemical Society.en_US
dc.languageengen_US
dc.publisherAmerican Chemical Society. The Journal's web site is located at http://pubs.acs.org/biochemistryen_US
dc.relation.ispartofBiochemistryen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshCeruloplasmin - Geneticsen_US
dc.subject.meshCloning, Molecularen_US
dc.subject.meshDna - Genetics - Isolation & Purificationen_US
dc.subject.meshGenesen_US
dc.subject.meshHumansen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshNucleic Acid Hybridizationen_US
dc.subject.meshPseudogenesen_US
dc.subject.meshTranscription, Geneticen_US
dc.titleIsolation and characterization of a processed gene for human ceruloplasminen_US
dc.typeArticleen_US
dc.identifier.emailChow, BKC: bkcc@hku.hken_US
dc.identifier.authorityChow, BKC=rp00681en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1021/bi00398a034-
dc.identifier.pmid3427102-
dc.identifier.scopuseid_2-s2.0-0023501968en_US
dc.identifier.volume26en_US
dc.identifier.issue24en_US
dc.identifier.spage7760en_US
dc.identifier.epage7767en_US
dc.identifier.isiWOS:A1987L208000034-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridKoschinsky, ML=7005583589en_US
dc.identifier.scopusauthoridChow, BKC=7102826193en_US
dc.identifier.scopusauthoridSchwartz, J=16209147800en_US
dc.identifier.scopusauthoridHamerton, JL=7006624960en_US
dc.identifier.scopusauthoridMacGillivray, RTA=7004286039en_US

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