A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis
Joint Authors
Sanders, Douglas N.
O'Brien, Dennis P.
Katz, Martin L.
Zeng, Rong
Johnson, Gary S.
Khan, Shahnawaz
Farias, Fabiana H.
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-12-06
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
The childhood neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that are progressive and ultimately fatal.
An Australian Shepherd that exhibited a progressive neurological disorder with signs similar to human NCL was evaluated.
The cerebral cortex, cerebellum, and retina were found to contain massive accumulations of autofluorescent inclusions characteristic of the NCLs.
Nucleotide sequence analysis of DNA from the affected dog identified a T to C variant (c.829T>C) in exon 7 of CLN6.
Mutations in the human ortholog underlie a late-infantile form of NCL in humans.
The T-to-C transition results in a tryptophan to arginine amino acid change in the predicted protein sequence.
Tryptophans occur at homologous positions in the CLN6 proteins from all 13 other vertebrates evaluated.
The c.829T>C transition is a strong candidate for the causative mutation in this NCL-affected dog.
Dogs with this mutation could serve as a model for the analogous human disorder.
American Psychological Association (APA)
Katz, Martin L.& Farias, Fabiana H.& Sanders, Douglas N.& Zeng, Rong& Khan, Shahnawaz& Johnson, Gary S.…[et al.]. 2010. A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis. BioMed Research International،Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-989915
Modern Language Association (MLA)
Katz, Martin L.…[et al.]. A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis. BioMed Research International No. 2011 (2011), pp.1-6.
https://search.emarefa.net/detail/BIM-989915
American Medical Association (AMA)
Katz, Martin L.& Farias, Fabiana H.& Sanders, Douglas N.& Zeng, Rong& Khan, Shahnawaz& Johnson, Gary S.…[et al.]. A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis. BioMed Research International. 2010. Vol. 2011, no. 2011, pp.1-6.
https://search.emarefa.net/detail/BIM-989915
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-989915