A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry Juyuan.

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A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry Juyuan.

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A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry Juyuan Guo, Gary S. Johnson, Holly A. Brown, Michele L. Provencher, Ronaldo C. da Costa, Tendai Mhlanga-Mutangadura, Jeremy F. Taylor, Robert D. Schnabel, Dennis P. O'Brien, Martin L. Katz Molecular Genetics and Metabolism Volume 112, Issue 4, Pages 302-309 (August 2014) DOI: 10.1016/j.ymgme.2014.05.014 Copyright © 2014 The Authors Terms and Conditions

Fig. 1 (A) Littermates produced by breeding between an Australian Shepherd and a Blue Heeler. A breeding between the dogs shown in (A) produced the dog shown in (B) that was characterized in this study. Molecular Genetics and Metabolism 2014 112, 302-309DOI: (10.1016/j.ymgme.2014.05.014) Copyright © 2014 The Authors Terms and Conditions

Fig. 2 T2 weighted MRI in the sagittal (A), dorsal (B) and transverse (C) planes from the affected dog. Cerebrospinal fluid (CSF) is white and brain parenchyma gray. Diffuse brain atrophy is indicated by increased CSF surrounding the folia of the cerebellum (A arrow), enlargement of the lateral ventricles (B & C asterisks), and widening of the sulci of the cerebral cortex (B & C arrowheads). Molecular Genetics and Metabolism 2014 112, 302-309DOI: (10.1016/j.ymgme.2014.05.014) Copyright © 2014 The Authors Terms and Conditions

Fig. 3 Fluorescence micrographs of cryostat sections of the cerebellum (A), parietal lobe of the cerebral cortex (B), and the retina (C). Accumulation of autofluorescent storage material was abundant in all 3 tissues. In the cerebellum the Purkinje cells (PC) showed the most pronounced accumulation of storage material. In the retina autofluorescent storage material content was most abundant in the ganglion cells (GC), along the outer limiting membrane (OLM), and in the retinal pigment epithelium (RPE). Bar in (B) indicates magnification for panels (A) and (B). Molecular Genetics and Metabolism 2014 112, 302-309DOI: (10.1016/j.ymgme.2014.05.014) Copyright © 2014 The Authors Terms and Conditions

Fig. 4 Electron micrographs of the storage material from a cerebellar Purkinje cell (A), a cerebral cortical neuron (B), a retinal ganglion cell (C), and a cell adjacent to the retinal outer limiting membrane (D). Molecular Genetics and Metabolism 2014 112, 302-309DOI: (10.1016/j.ymgme.2014.05.014) Copyright © 2014 The Authors Terms and Conditions

Fig. 5 GFAP immunostained sections of the cerebellar white matter (medulla) from a one-year-old normal Beagle (A) and from the dog with NCL (B). The density of GFAP-positive cells and the amount GFAP staining per cell was much higher in the affected dog than in the dog that did not suffer from NCL. Molecular Genetics and Metabolism 2014 112, 302-309DOI: (10.1016/j.ymgme.2014.05.014) Copyright © 2014 The Authors Terms and Conditions

Fig. 6 (A) Sequence reads from the mixed-breed dog whole-genome sequence aligned to a segment of canine chromosome 37 showing the homozygous G>A transition in CLN8. (B) Automated Sanger sequence confirms the G>A transition in CLN8 in DNA from the mixed-breed dog with NCL. Molecular Genetics and Metabolism 2014 112, 302-309DOI: (10.1016/j.ymgme.2014.05.014) Copyright © 2014 The Authors Terms and Conditions