Chondrodysplasia in Texel sheep is a recessively inherited disorder characterized by dwarfism and angular deformities of the forelimbs. A genome-wide association study using the Illumina OvineSNP50 BeadChip on 15 sheep diagnosed as affected and eight carriers descended from three affected rams was conducted to uncover the genetic cause. A homozygous region of 25 consecutive single nucleotide polymorphism (SNP) loci was identified in all affected sheep, covering a region of 1 Mbp on ovine chromosome 4. Seven positional candidate genes - including the solute carrier family 13 (sodium/sulphate symporters), member 1 (SLC13A1) - were identified and used to search for new SNPs for fine mapping of the causal locus. The SLC13A1 gene, encoding a sodium/sulphate transporter, was the primary candidate gene attributable to similar phenotypes observed in the Slc13a1 knockout mouse model. We discovered a 1-bp deletion of T (g.25513delT) at the 107 bp position of exon 3 in the SLC13A1 gene. Genotyping by direct sequencing and restriction fragment length polymorphism analysis for this mutation showed that all 15 affected sheep were g.25513delT/g.25513delT; the eight carriers were g.25513delT/T and 54 normal controls were T/T. The mutation g.25513delT shifts the open reading frame of SLC13A1 to introduce a stop codon and truncate C-terminal amino acids. It was concluded that the g.25513delT mutation in the SLC13A1 gene was responsible for the chondrodysplasia seen in these Texel sheep. This knowledge can be used to identify carriers with the defective g.[25513delT] allele to avoid at-risk matings to improve animal welfare and decrease economic losses.
Résumé
Les papillomes viraux développés sur le doigt d’un chien ont été retirés et ont récidivés à quatre reprises en deux ans. Malgré la « persistance » des papillomes, ils sont restés petits et confinés aux doigts, et n’ont pas disséminés ou ne se sont pas aggravés. Tous les papillomes persistants ne progressent pas, même si ils sont traités avec des traitements plus conservateurs.
This paper reports findings from a feline case of hippocampal necrosis. A seven-year-old neutered female cat was seen with a history of behavioural change followed by complex focal seizures. The cat was severely pyrexic on presentation and anisocoria was present. It was treated with cooling, intravenous fluid, and phenobarbitone administration which was later changed to levetiracetam. An MRI was performed and revealed findings of a hypointense T1 and hyperintense T2 signal in the hippocampus and inferior temporal gyrus with mild gadolinium uptake, findings which were consistent with previous cases of hippocampal necrosis. The cat was witnessed to vomit and aspirate 24 hours after diagnosis leading to cardiac arrest and death. Postmortem examination revealed a subacute degenerative encephalopathy involving the hippocampus.
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