Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-10

AUTHORS

Jacquelyn M. Evans, Melissa L. Cox, Jonathan Huska, Frank Li, Luis Gaitero, Ling T. Guo, Margaret L. Casal, Henk L. Granzier, G. Diane Shelton, Leigh Anne Clark

ABSTRACT

Nemaline myopathy (NM) is a congenital muscle disorder associated with muscle weakness, hypotonia, and rod bodies in the skeletal muscle fibers. Mutations in 10 genes have been implicated in human NM, but spontaneous cases in dogs have not been genetically characterized. We identified a novel recessive myopathy in a family of line-bred American bulldogs (ABDs); rod bodies in muscle biopsies established this as NM. Using SNP profiles from the nuclear family, we evaluated inheritance patterns at candidate loci and prioritized TNNT1 and NEB for further investigation. Whole exome sequencing of the dam, two affected littermates, and an unaffected littermate revealed a nonsense mutation in NEB (g.52734272 C>A, S8042X). Whole tissue gel electrophoresis and western blots confirmed a lack of full-length NEB in affected tissues, suggesting nonsense-mediated decay. The pathogenic variant was absent from 120 dogs of 24 other breeds and 100 unrelated ABDs, suggesting that it occurred recently and may be private to the family. This study presents the first molecularly characterized large animal model of NM, which could provide new opportunities for therapeutic approaches. More... »

PAGES

495-502

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00335-016-9644-9

DOI

http://dx.doi.org/10.1007/s00335-016-9644-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1000231858

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27215641


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JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00335-016-9644-9'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00335-016-9644-9'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00335-016-9644-9'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00335-016-9644-9'


 

This table displays all metadata directly associated to this object as RDF triples.

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