A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats

Publisher Copyright: © 2020 by the authors.An inherited neurologic syndrome in a family of mixed-breed Oriental cats has been characterized as forebrain commissural malformation, concurrent with ventriculomegaly and interhemispheric cysts. However, the genetic basis for this autosomal recessive syndrome in cats is unknown. Forty-three cats were genotyped on the Illumina Infinium Feline 63K iSelect DNA Array and used for analyses. Genome-wide association studies, including a sib-transmission disequilibrium test and a case-control association analysis, and homozygosity mapping, identified a critical region on cat chromosome A3. Short-read whole genome sequencing was completed for a cat trio segregating with the syndrome. A homozygous 7 bp deletion in growth differentiation factor 7 (GDF7) (c.221_227delGCCGCGC [p.Arg74Profs]) was identified in affected cats, by comparison to the 99 Lives Cat variant dataset, validated using Sanger sequencing and genotyped by fragment analyses. This variant was not identified in 192 unaffected cats in the 99 Lives dataset. The variant segregated concordantly in an extended pedigree. In mice, GDF7 mRNA is expressed within the roof plate when commissural axons initiate ventrally-directed growth. This finding emphasized the importance of GDF7 in the neurodevelopmental process in the mammalian brain. A genetic test can be developed for use by cat breeders to eradicate this variant.Peer reviewe

Retention of mobile water during dehydration in the desiccation-tolerant grass Eragrostis nindensis

Leaf tensile strength was measured for the drought-tolerant grass Eragrostis curvula and the desiccation-tolerant grass E. nindensis when fully hydrated, partially dehydrated, naturally air-dried, and flash-dried. Leaf tensile strength increased in intact, air-dried leaves of E. curvula but not for similarly treated leaves of E. nindensis. Examination of leaf cross-sections by light microscopy and histochemical staining for lignins failed to show any significant structural differences between the two species in the hydrated state. When leaves were flash-dried, the tensile strength of E. curvula remained unchanged from leaves dried naturally, while there was a marked increase in the tensile strength of flash-dried leaves of E. nindensis. Proton NMR indicated that the desiccation-tolerant E. nindensis retained mobile water when leaf relative water content was less than 20% if dried naturally but not if flash-dried, whereas no mobile water was detected in leaves of E. curvula when dried either naturally or with flash-drying to below 20% relative water content. This behaviour suggests a fundamental difference in strategy for surviving water loss in vegetative tissues between desiccation-tolerant species and drought-tolerant species

Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits

The amyloidoses constitute a group of diseases occurring in humans and animals that are characterized by abnormal deposits of aggregated proteins in organs, affecting their structure and function. In the Abyssinian cat breed, a familial form of renal amyloidosis has been described. In this study, multi-omics analyses were applied and integrated to explore some aspects of the unknown pathogenetic processes in cats. Whole-genome sequences of two affected Abyssinians and 195 controls of other breeds (part of the 99 Lives initiative) were screened to prioritize potential disease-associated variants. Proteome and miRNAome from formalin-fixed paraffin-embedded kidney specimens of fully necropsied Abyssinian cats, three affected and three non-amyloidosis-affected were characterized. While the trigger of the disorder remains unclear, overall, (i) 35,960 genomic variants were detected; (ii) 215 and 56 proteins were identified as exclusive or overexpressed in the affected and control kidneys, respectively; (iii) 60 miRNAs were differentially expressed, 20 of which are newly described. With omics data integration, the general conclusions are: (i) the familial amyloid renal form in Abyssinians is not a simple monogenic trait; (ii) amyloid deposition is not triggered by mutated amyloidogenic proteins but is a mix of proteins codified by wild-type genes; (iii) the form is biochemically classifiable as AA amyloidosis