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

South Atlantic Interbasin Exchanges of Mass, Heat, Salt and Anthropogenic Carbon

The exchange of mass, heat, salt and anthropogenic carbon (Cant) between the South Atlantic, south of 24°S, and adjacent ocean basins is estimated from hydrographic data obtained during 2008-2009 using an inverse method. Transports of anthropogenic carbon are calculated across the western (Drake Passage), eastern (30°E) and northern (24°S) boundaries. The freshwater overturning transport of 0.09 Sv is southward, consistent with an overturning circulation that exports freshwater from the North Atlantic, and consistent with a bistable Meridional Overturning Circulation (MOC), under conditions of excess freshwater perturbation. At 30°E, net eastward Antarctic Circumpolar Current (ACC) transport, south of the Subtropical Front, is compensated by a 15.9±2.3 Sv westward flow along the Antarctic boundary. The region as a whole is a substantial sink for atmospheric anthropogenic carbon of 0.51±0.37 PgC yr-1, of which 0.18±0.12 PgC yr-1 accumulates and is stored within the water column. At 24°S, a 20.2 Sv meridional overturning is associated with a 0.11 PgC yr-1 Cant overturning. The remainder is transported into the Atlantic Ocean north of 24°S (0.28±0.16 PgC yr-1) and Indian sector of Southern Ocean (1.12±0.43 PgC yr-1), having been enhanced by inflow through Drake Passage (1.07±0.44 PgC yr-1). This underlines the importance of the South Atlantic as a crucial element of the anthropogenic carbon sink in the global oceans

Werewolf, there wolf : Variants in hairless associated with hypotrichia and roaning in the lykoi cat breed

Publisher Copyright: © 2020 by the authors. Licensee MDPI, Basel, Switzerland.A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k.a. werewolf cat), was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non‐lykoi cats suggested two variants in the cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.Peer reviewe