A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.

ABSTRACT:

Background

We aimed to identify mutations associated with osteochondromatosis in a litter of American Staffordshire Terrier puppies.

Hypothesis

We hypothesized that the associated mutation would be located in a gene that causes osteochondromatosis in humans.

Animals

A litter of 9 American Staffordshire puppies, their sire and dam, 3 of 4 grandparents, 26 healthy unrelated American Staffordshire Terriers, and 154 dogs of 27 different breeds.

Methods

Whole genome sequencing was performed on the proband, and variants were compared against polymorphisms derived from 154 additional dogs across 27 breeds, as well as single nucleotide polymorphism database 146. One variant was selected for follow-up sequencing. Parentage and genetic mosaicism were evaluated across the

SUBMITTER: Friedenberg SG 

PROVIDER: S-EPMC5980316 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature