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Article: Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue

TitleGenomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue
Authors
Issue Date1999
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1999, v. 62 n. 2, p. 289-292 How to Cite?
AbstractCitrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined by a quantitative decrease in ASS protein, but with normal kinetic properties. The gene causing CTLN2 (SLC25A13) was identified by positional cloning (from 7q21.3) and found to encode a putative calcium-dependent mitochondrial carrier protein. To facilitate mutation analysis, here we describe the intron-exon boundaries of the human SLC25A13 gene. We have also cloned and characterized the mouse homologue (Slc25a13), which is predicted to encode a protein of 676 amino acids with 96% amino acid identity to SLC25A13. RNA in situ hybridization analysis shows that Slc25a13 is expressed in the branchial arches, as well as the limb and tail buds, during mouse embryonic development (E10.5). At E13.5 expression of Slc25a13 is most predominant in epithelial structures, in addition to the forebrain, kidney, and liver.
Persistent Identifierhttp://hdl.handle.net/10722/44356
ISSN
2015 Impact Factor: 2.386
2015 SCImago Journal Rankings: 1.281
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorSinasac, DSen_HK
dc.contributor.authorCrackower, MAen_HK
dc.contributor.authorLee, JRen_HK
dc.contributor.authorKobayashi, Ken_HK
dc.contributor.authorSaheki, Ten_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:52:01Z-
dc.date.available2007-09-12T03:52:01Z-
dc.date.issued1999en_HK
dc.identifier.citationGenomics, 1999, v. 62 n. 2, p. 289-292en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44356-
dc.description.abstractCitrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined by a quantitative decrease in ASS protein, but with normal kinetic properties. The gene causing CTLN2 (SLC25A13) was identified by positional cloning (from 7q21.3) and found to encode a putative calcium-dependent mitochondrial carrier protein. To facilitate mutation analysis, here we describe the intron-exon boundaries of the human SLC25A13 gene. We have also cloned and characterized the mouse homologue (Slc25a13), which is predicted to encode a protein of 676 amino acids with 96% amino acid identity to SLC25A13. RNA in situ hybridization analysis shows that Slc25a13 is expressed in the branchial arches, as well as the limb and tail buds, during mouse embryonic development (E10.5). At E13.5 expression of Slc25a13 is most predominant in epithelial structures, in addition to the forebrain, kidney, and liver.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshArgininosuccinate synthase - deficiency - geneticsen_HK
dc.subject.meshCalcium-binding proteins - biosynthesis - chemistry - geneticsen_HK
dc.subject.meshCitrullinemia - enzymology - geneticsen_HK
dc.subject.meshGene expression regulationen_HK
dc.subject.meshSequence homology, amino aciden_HK
dc.titleGenomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologueen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=62&issue=2&spage=289&epage=292&date=1999&atitle=Genomic+structure+of+the+adult-onset+type+II+citrullinemia+gene,+SLC25A13,+and+cloning+and+expression+of+its+mouse+homologueen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1006/geno.1999.6006en_HK
dc.identifier.pmid10610724en_HK
dc.identifier.scopuseid_2-s2.0-0033400205en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033400205&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume62en_HK
dc.identifier.issue2en_HK
dc.identifier.spage289en_HK
dc.identifier.epage292en_HK
dc.identifier.isiWOS:000084825100021-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridSinasac, DS=7801388288en_HK
dc.identifier.scopusauthoridCrackower, MA=6701530321en_HK
dc.identifier.scopusauthoridLee, JR=19435064100en_HK
dc.identifier.scopusauthoridKobayashi, K=7407127141en_HK
dc.identifier.scopusauthoridSaheki, T=7005678417en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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