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

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Yu , Y , Creighton , E K , Buckley , R M , Lyons , L A , Buckley , R M , Aberdein , D , Alves , P C , Barsh , G S , Bellone , R R , Bergström , T F , Boyko , A R , Brockman , J A , Casal , M L , Castelhano , M G , Distl , O , Dodman , N H , Ellinwood , N M , Fogle , J E , Forman , O P , Garrick , D J , Ginns , E I , Häggström , J , Harvey , R J , Hasegawa , D , Haase , B , Helps , C R , Hernandez , I , Hytönen , M K , Kaukonen , M , Kaelin , C B , Kosho , T , Leclerc , E , Lear , T L , Leeb , T , Li , R H L , Lohi , H , Longeri , M , Magnuson , M A , Malik , R , Mane , S P , Munday , J S , Murphy , W J , Pedersen , N C , Peterson-Jones , S M , Rothschild , M F , Rusbridge , C , Shapiro , B , Stern , J A , Swanson , W F , Terio , K A , Todhunter , R J , Warren , W C , Wilcox , E A , Wildschutte , J H , Yu , Y & Lyons , L A 2020 , ' A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats ' , Genes , vol. 11 , no. 6 , 672 . https://doi.org/10.3390/genes11060672

Title: A deletion in GDF7 is associated with a heritable forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts in cats
Author: Yu, Yoshihiko; Creighton, Erica K.; Buckley, Reuben M.; Lyons, Leslie A.; Buckley, Reuben M.; Aberdein, Danielle; Alves, Paulo C.; Barsh, Gregory S.; Bellone, Rebecca R.; Bergström, Tomas F.; Boyko, Adam R.; Brockman, Jeffrey A.; Casal, Margret L.; Castelhano, Marta G.; Distl, Ottmar; Dodman, Nicholas H.; Ellinwood, N. Matthew; Fogle, Jonathan E.; Forman, Oliver P.; Garrick, Dorian J.; Ginns, Edward I.; Häggström, Jens; Harvey, Robert J.; Hasegawa, Daisuke; Haase, Bianca; Helps, Christopher R.; Hernandez, Isabel; Hytönen, Marjo K.; Kaukonen, Maria; Kaelin, Christopher B.; Kosho, Tomoki; Leclerc, Emilie; Lear, Teri L.; Leeb, Tosso; Li, Ronald H.L.; Lohi, Hannes; Longeri, Maria; Magnuson, Mark A.; Malik, Richard; Mane, Shrinivasrao P.; Munday, John S.; Murphy, William J.; Pedersen, Niels C.; Peterson-Jones, Simon M.; Rothschild, Max F.; Rusbridge, Clare; Shapiro, Beth; Stern, Joshua A.; Swanson, William F.; Terio, Karen A.; Todhunter, Rory J.; Warren, Wesley C.; Wilcox, Elizabeth A.; Wildschutte, Julia H.; Yu, Yoshihiko; Lyons, Leslie A.
Contributor organization: Medicum
Department of Medical and Clinical Genetics
Veterinary Biosciences
Hannes Tapani Lohi / Principal Investigator
Helsinki One Health (HOH)
Veterinary Genetics
Biosciences
Date: 2020-06
Language: eng
Number of pages: 15
Belongs to series: Genes
ISSN: 2073-4425
DOI: https://doi.org/10.3390/genes11060672
URI: http://hdl.handle.net/10138/340614
Abstract: 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.
Description: Publisher Copyright: © 2020 by the authors.
Subject: BMP12
Brain malformation
Feline
Felis catus
Genetics
Genome-wide association study
Genomics
Mendelian traits
Neurodevelopment
Whole genome sequencing
413 Veterinary science
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion


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