Chromosomal imbalance in pigs showing a syndromic form of cleft palate.

ABSTRACT:

Background

Palatoschisis or cleft palate is a known anomaly in pigs resulting in their death. However, little is known about its aetiology. A detailed description of the phenotype was derived from necropsy and by computed tomography revealing that all 20 cases also exhibited hypodontia and renal cysts. Furthermore, a genetic origin was assumed due to dominant inheritance as all 20 recorded cases were confirmed offspring of a single boar.

Results

Single nucleotide variant (SNV) genotyping data were used to map the defect in the porcine genome and led to the detection of a chromosomal imbalance in the affected offspring. Whole genome sequencing of an affected piglet and a normal full sib was used to identify a chromosomal translocation and to fine map the breakpoints in the ge

SUBMITTER: Grahofer A 

PROVIDER: S-EPMC6505205 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature