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Sensory ataxic neur...
Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene
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- Baranowska, Izabella (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics
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- Hultin Jäderlund, Karin (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences
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- Nennesmo, Inger (author)
- Karolinska Institutet
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- Holmqvist, Erik (author)
- Uppsala universitet,Institutionen för cell- och molekylärbiologi
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- Heidrich, Nadja (author)
- Uppsala universitet,Institutionen för cell- och molekylärbiologi
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- Larsson, Nils-Göran (author)
- Karolinska Institutet
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- Andersson, Göran (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics
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- Wagner, Gerhart E. H. (author)
- Uppsala universitet,Institutionen för cell- och molekylärbiologi
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- Hedhammar, Åke (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för kliniska vetenskaper (KV),Department of Clinical Sciences
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- Wibom, Rolf (author)
- Karolinska Institutet
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- Andersson, Leif (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics
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(creator_code:org_t)
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- 2009-05-29
- 2009
- English.
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In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 5:5, s. e1000499-
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Abstract
Subject headings
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- Sensory ataxic neuropathy (SAN) is a recently identified neurological disorder in golden retrievers. Pedigree analysis revealed that all affected dogs belong to one maternal lineage, and a statistical analysis showed that the disorder has a mitochondrial origin. A one base pair deletion in the mitochondrial tRNA(Tyr) gene was identified at position 5304 in affected dogs after re-sequencing the complete mitochondrial genome of seven individuals. The deletion was not found among dogs representing 18 different breeds or in six wolves, ruling out this as a common polymorphism. The mutation could be traced back to a common ancestor of all affected dogs that lived in the 1970s. We used a quantitative oligonucleotide ligation assay to establish the degree of heteroplasmy in blood and tissue samples from affected dogs and controls. Affected dogs and their first to fourth degree relatives had 0-11% wild-type (wt) sequence, while more distant relatives ranged between 5% and 60% wt sequence and all unrelated golden retrievers had 100% wt sequence. Northern blot analysis showed that tRNA(Tyr) had a 10-fold lower steady-state level in affected dogs compared with controls. Four out of five affected dogs showed decreases in mitochondrial ATP production rates and respiratory chain enzyme activities together with morphological alterations in muscle tissue, resembling the changes reported in human mitochondrial pathology. Altogether, these results provide conclusive evidence that the deletion in the mitochondrial tRNA(Tyr) gene is the causative mutation for SAN.
Subject headings
- NATURVETENSKAP -- Biologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences (hsv//eng)
- LANTBRUKSVETENSKAPER -- Husdjursvetenskap (hsv//swe)
- AGRICULTURAL SCIENCES -- Animal and Dairy Sience (hsv//eng)
- LANTBRUKSVETENSKAPER -- Veterinärmedicin (hsv//swe)
- AGRICULTURAL SCIENCES -- Veterinary Science (hsv//eng)
Keyword
- Biology
- Biologi
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Baranowska, Izab ...
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Hultin Jäderlund ...
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Nennesmo, Inger
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Holmqvist, Erik
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Heidrich, Nadja
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Larsson, Nils-Gö ...
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show more...
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Andersson, Göran
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Wagner, Gerhart ...
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Hedhammar, Åke
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Wibom, Rolf
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Andersson, Leif
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show less...
- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Animal and Dairy ...
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- AGRICULTURAL SCIENCES
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AGRICULTURAL SCI ...
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and Veterinary Scien ...
- Articles in the publication
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PLoS Genetics
- By the university
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Uppsala University
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Karolinska Institutet
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Swedish University of Agricultural Sciences