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Article: A frameshift mutation in the γE-crystallin gene of the Elo mouse

TitleA frameshift mutation in the γE-crystallin gene of the Elo mouse
Authors
Issue Date1992
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1992, v. 2 n. 1, p. 42-45 How to Cite?
AbstractThe murine Elo (eye lens obsolesence) mutation confers a dominant phenotype characterized by malformation of the eye lens. The mutation maps to chromosome 1, in close proximity to the γE-crystallin gene which is the 3′-most member of the γ-crystallin gene cluster. We have analysed the sequence of this gene from the Elo mouse and identified a single nucleotide deletion which destroys the fourth and last "Greek key" motif of the protein. This mutation is tightly associated with the phenotype, as no recombination was detected in 274 meioses. In addition, the mutant mRNA is present in the affected lens, providing further support for our hypothesis that the deletion is responsible for the dominant Elo phenotype.
Persistent Identifierhttp://hdl.handle.net/10722/44254
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorCartier, Men_HK
dc.contributor.authorBreitman, MLen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:49:58Z-
dc.date.available2007-09-12T03:49:58Z-
dc.date.issued1992en_HK
dc.identifier.citationNature Genetics, 1992, v. 2 n. 1, p. 42-45en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44254-
dc.description.abstractThe murine Elo (eye lens obsolesence) mutation confers a dominant phenotype characterized by malformation of the eye lens. The mutation maps to chromosome 1, in close proximity to the γE-crystallin gene which is the 3′-most member of the γ-crystallin gene cluster. We have analysed the sequence of this gene from the Elo mouse and identified a single nucleotide deletion which destroys the fourth and last "Greek key" motif of the protein. This mutation is tightly associated with the phenotype, as no recombination was detected in 274 meioses. In addition, the mutant mRNA is present in the affected lens, providing further support for our hypothesis that the deletion is responsible for the dominant Elo phenotype.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.meshCrystallins - geneticsen_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshFrameshift mutationen_HK
dc.subject.meshLens, crystalline - abnormalitiesen_HK
dc.subject.meshMice, mutant strainsen_HK
dc.titleA frameshift mutation in the γE-crystallin gene of the Elo mouseen_HK
dc.typeArticleen_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/ng0992-42en_HK
dc.identifier.pmid1303247-
dc.identifier.scopuseid_2-s2.0-0026921910en_HK
dc.identifier.volume2en_HK
dc.identifier.issue1en_HK
dc.identifier.spage42en_HK
dc.identifier.epage45en_HK
dc.identifier.isiWOS:A1992JM64600014-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridCartier, M=7004655336en_HK
dc.identifier.scopusauthoridBreitman, ML=7005448008en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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