A Deletion in GDF7 is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats

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dc.citation.issue6
dc.citation.volume11
dc.contributor.authorYu Y
dc.contributor.authorCreighton EK
dc.contributor.authorBuckley RM
dc.contributor.authorLyons LA
dc.contributor.author99 Lives Consortium
dc.coverage.spatialSwitzerland
dc.date.accessioned2024-01-16T02:12:39Z
dc.date.accessioned2024-07-25T06:49:38Z
dc.date.available2020-06-19
dc.date.available2024-01-16T02:12:39Z
dc.date.available2024-07-25T06:49:38Z
dc.date.issued2020-06-19
dc.description.abstractAn 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.
dc.description.confidentialfalse
dc.edition.editionJune 2020
dc.format.pagination1-15
dc.identifier.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/32575532
dc.identifier.citationYu Y, Creighton EK, Buckley RM, Lyons LA, 99 Lives Consortium . (2020). A Deletion in GDF7 is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats.. Genes (Basel). 11. 6. (pp. 1-15).
dc.identifier.doi10.3390/genes11060672
dc.identifier.eissn2073-4425
dc.identifier.elements-typejournal-article
dc.identifier.issn2073-4425
dc.identifier.number672
dc.identifier.piigenes11060672
dc.identifier.urihttps://mro.massey.ac.nz/handle/10179/70962
dc.languageeng
dc.publisherMDPI (Basel, Switzerland)
dc.publisher.urihttps://www.mdpi.com/2073-4425/11/6/672
dc.relation.isPartOfGenes (Basel)
dc.rights(c) 2020 The Author/s
dc.rightsCC BY 4.0
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectBMP12
dc.subjectFelis catus
dc.subjectbrain malformation
dc.subjectfeline
dc.subjectgenetics
dc.subjectgenome-wide association study
dc.subjectgenomics
dc.subjectmendelian traits
dc.subjectneurodevelopment
dc.subjectwhole genome sequencing
dc.subjectAnimals
dc.subjectBone Morphogenetic Proteins
dc.subjectCats
dc.subjectGenome-Wide Association Study
dc.subjectGenotype
dc.subjectHomozygote
dc.subjectHydrocephalus
dc.subjectMice
dc.subjectNervous System Malformations
dc.subjectPedigree
dc.subjectPhenotype
dc.subjectTelencephalic Commissures
dc.subjectWhole Genome Sequencing
dc.titleA Deletion in GDF7 is Associated with a Heritable Forebrain Commissural Malformation Concurrent with Ventriculomegaly and Interhemispheric Cysts in Cats
dc.typeJournal article
pubs.elements-id441667
pubs.organisational-groupOther
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