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- Baranowska, Izabella, et al.
(författare)
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Sensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene
- 2009
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Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 5:5, s. e1000499-
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 2. |
- Mohamad, Kusdiantoro, et al.
(författare)
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On the Origin of Indonesian Cattle
- 2009
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Ingår i: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 4:5
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Tidskriftsartikel (refereegranskat)abstract
- Background: Two bovine species contribute to the Indonesian livestock, zebu (Bos indicus) and banteng (Bos javanicus), respectively. Although male hybrid offspring of these species is not fertile, Indonesian cattle breeds are supposed to be of mixed species origin. However, this has not been documented and is so far only supported by preliminary molecular analysis. Methods and Findings: Analysis of mitochondrial, Y-chromosomal and microsatellite DNA showed a banteng introgression of 10-16% in Indonesian zebu breeds. East-Javanese Madura and Galekan cattle have higher levels of autosomal banteng introgression (20-30%) and combine a zebu paternal lineage with a predominant (Madura) or even complete (Galekan) maternal banteng origin. Two Madura bulls carried taurine Y-chromosomal haplotypes, presumably of French Limousin origin. In contrast, we did not find evidence for zebu introgression in five populations of the Bali cattle, a domestic form of the banteng. Conclusions: Because of their unique species composition Indonesian cattle represent a valuable genetic resource, which potentially may also be exploited in other tropical regions.
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| 4. |
- Markljung, Ellen, et al.
(författare)
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ZBED6, a novel transcription factor derived from a domesticated DNA transposon regulates IGF2 expression and muscle growth
- 2009
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Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 7:12, s. e1000256-
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Tidskriftsartikel (refereegranskat)abstract
- A single nucleotide substitution in intron 3 of IGF2 in pigs abrogates a binding site for a repressor and leads to a 3-fold up-regulation of IGF2 in skeletal muscle. The mutation has major effects on muscle growth, size of the heart, and fat deposition. Here, we have identified the repressor and find that the protein, named ZBED6, is previously unknown, specific for placental mammals, and derived from an exapted DNA transposon. Silencing of Zbed6 in mouse C2C12 myoblasts affected Igf2 expression, cell proliferation, wound healing, and myotube formation. Chromatin immunoprecipitation (ChIP) sequencing using C2C12 cells identified about 2,500 ZBED6 binding sites in the genome, and the deduced consensus motif gave a perfect match with the established binding site in Igf2. Genes associated with ZBED6 binding sites showed a highly significant enrichment for certain Gene Ontology classifications, including development and transcriptional regulation. The phenotypic effects in mutant pigs and ZBED6-silenced C2C12 myoblasts, the extreme sequence conservation, its nucleolar localization, the broad tissue distribution, and the many target genes with essential biological functions suggest that ZBED6 is an important transcription factor in placental mammals, affecting development, cell proliferation, and growth.
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| 6. |
- Ekerljung, Marie, et al.
(författare)
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In silico analysis of the dog genome identifies Canine Endogenous Retroviruses (CfERVs)
- 2009
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Ingår i: Retrovirology. - 1742-4690. ; 6
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Konferensbidrag (refereegranskat)abstract
- A whole dog genome analysis was perfomed using RetroTector© to identify and define the complexity of canine endogenous retroviruses (CfERV). Results show that all dog chromosomes contain CfERV integrations. Furthermore, the integration pattern was shown to be uneven with some regions essentially devoid of integrations and other regions having large amounts of CfERV integrations. The dog may well have been effective in protecting its genome from integrations of most types of endogenous retroviruses. Compared to mouse, chimpanzee and human, dog has substantially lower amounts of ERVs. We identified a total of 416 ERVs, which is only approximately a fifth of the amount of HERVs found in the human genome. Phylogenetic analysis showed that the vast majority of CfERVs cluster with the gammaretrovirus genus (n = 318). The second most common group was the beta-retroviruses (n = 27). This pattern is similar in other vertebrates. In addition, three spuma-like and four gypsy-like CfERVs were identified. The latter group is rare in vertebrate genomes. Moreover, we identified a group of 55 CfERVs with mixed phylogenetic relationship to any known retroviral genera. The integration pattern of CfERVs was analyzed in relation to genes in their vicinity and a substantial fraction of CfERV was found within annotated genes and within 100 kb from annotated dog genes. Interestingly, a group of recently integrated CfERVs with similarity to HERV-Fc1 was found. Several of them had all or nearly all major reading frames open, a sign of functionality. Therefore, some of these CfERVs may have potential for active retrotransposition and thus actively contribute to the plasticity of canine genomes. The differential distribution and amounts of ERVs in the dog genome compared to genomes in the primate and rodent clades suggest species-specific mechanisms of purging different classes of ERVs
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