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Article: The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

TitleThe gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
Authors
Issue Date1999
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1999, v. 22 n. 2, p. 159-163 How to Cite?
AbstractCitrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in hepatic ASS mRNA or the gene ASS (refs 1-17). CTLN2 patients (1/100,000 in Japan) suffer from a disturbance of consciousness and coma, and most die with cerebral edema within a few years of onset. CTLN2 differs from classical citrullinaemia (CTLN1, OMIM 215700) in that CTLN1 is neonatal or infantile in onset, with ASS enzyme defects (in all tissues) arising due to mutations in ASS on chromosome 9q34 (refs 18-21). We collected 118 CTLN2 families, and localized the CTLN2 locus to chromosome 7q21.3 by homozygosity mapping analysis of individuals from 18 consanguineous unions. Using positional cloning we identified a novel gene, SLC25A13, and found five different DNA sequence alterations that account for mutations in all consanguineous patients examined. SLC25A13 encodes a 3.4-kb transcript expressed most abundantly in liver. The protein encoded by SLC25A13, named citrin, is bipartite in structure, containing a mitochondrial carrier motif and four EF-hand domains, suggesting it is a calcium-dependent mitochondrial solute transporter with a role in urea cycle function.
Persistent Identifierhttp://hdl.handle.net/10722/44354
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKobayashi, Ken_HK
dc.contributor.authorSinasac, DSen_HK
dc.contributor.authorIijima, Men_HK
dc.contributor.authorBoright, APen_HK
dc.contributor.authorBegum, Len_HK
dc.contributor.authorLee, JRen_HK
dc.contributor.authorYasuda, Ten_HK
dc.contributor.authorIkeda, Sen_HK
dc.contributor.authorHirano, Ren_HK
dc.contributor.authorTerazono, Hen_HK
dc.contributor.authorCrackower, MAen_HK
dc.contributor.authorKondo, Ien_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorSaheki, Ten_HK
dc.date.accessioned2007-09-12T03:51:59Z-
dc.date.available2007-09-12T03:51:59Z-
dc.date.issued1999en_HK
dc.identifier.citationNature Genetics, 1999, v. 22 n. 2, p. 159-163en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44354-
dc.description.abstractCitrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset type II citrullinaemia (CTLN2) is characterized by a liver-specific ASS deficiency with no abnormalities in hepatic ASS mRNA or the gene ASS (refs 1-17). CTLN2 patients (1/100,000 in Japan) suffer from a disturbance of consciousness and coma, and most die with cerebral edema within a few years of onset. CTLN2 differs from classical citrullinaemia (CTLN1, OMIM 215700) in that CTLN1 is neonatal or infantile in onset, with ASS enzyme defects (in all tissues) arising due to mutations in ASS on chromosome 9q34 (refs 18-21). We collected 118 CTLN2 families, and localized the CTLN2 locus to chromosome 7q21.3 by homozygosity mapping analysis of individuals from 18 consanguineous unions. Using positional cloning we identified a novel gene, SLC25A13, and found five different DNA sequence alterations that account for mutations in all consanguineous patients examined. SLC25A13 encodes a 3.4-kb transcript expressed most abundantly in liver. The protein encoded by SLC25A13, named citrin, is bipartite in structure, containing a mitochondrial carrier motif and four EF-hand domains, suggesting it is a calcium-dependent mitochondrial solute transporter with a role in urea cycle function.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature Geneticsen_HK
dc.subject.meshChromosomes, human, pair 9en_HK
dc.subject.meshCitrulline - blooden_HK
dc.subject.meshMembrane transport proteinsen_HK
dc.subject.meshMitochondria, liver - metabolismen_HK
dc.subject.meshMitochondrial proteinsen_HK
dc.titleThe gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier proteinen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1061-4036&volume=22&issue=2&spage=159&epage=163&date=1999&atitle=The+gene+mutated+in+adult-onset+type+II+citrullinaemia+encodes+a+putative+mitochondrial+carrier+proteinen_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.doi10.1038/9667en_HK
dc.identifier.pmid10369257-
dc.identifier.scopuseid_2-s2.0-0033037729en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0033037729&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume22en_HK
dc.identifier.issue2en_HK
dc.identifier.spage159en_HK
dc.identifier.epage163en_HK
dc.identifier.isiWOS:000080680900020-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridKobayashi, K=7407127141en_HK
dc.identifier.scopusauthoridSinasac, DS=7801388288en_HK
dc.identifier.scopusauthoridIijima, M=7201773787en_HK
dc.identifier.scopusauthoridBoright, AP=6603298498en_HK
dc.identifier.scopusauthoridBegum, L=6603232432en_HK
dc.identifier.scopusauthoridLee, JR=19435064100en_HK
dc.identifier.scopusauthoridYasuda, T=7402397456en_HK
dc.identifier.scopusauthoridIkeda, S=7404042270en_HK
dc.identifier.scopusauthoridHirano, R=36813582900en_HK
dc.identifier.scopusauthoridTerazono, H=6602360303en_HK
dc.identifier.scopusauthoridCrackower, MA=6701530321en_HK
dc.identifier.scopusauthoridKondo, I=7102178986en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridSaheki, T=7005678417en_HK

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