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Using Phylogenetic Analysis to Investigate Eukaryotic Gene Origin
Published on: August 14, 2018
Molecular Analyses in a Rabbit Model of Craniosynostosis: Likely Exclusion of Known Candidate Genes as the Loci of
James R Gilbert1,2,3, Gwen M Taylor4, Joseph E Losee1
11 Department of Plastic Surgery, University of Pittsburgh/Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Objective:
Craniosynostosis (CS) involves the premature fusion of one or more cranial sutures. We work with a naturally occurring rabbit model of CS with an undefined etiology. Known causes of coronal CS were evaluated to identify potential associations with CS in the rabbit.
Design:
Candidate genes were sequenced in control New Zealand White (NZW) rabbits (n = 4) and synostotic NZW rabbits (n = 4). Variants were identified by alignment using Clustal Omega.
Outcome Measures:
Single nucleotide variants (SNVs) were classified according to phenotypic associations and predicted impact on protein structure. Human correlates were identified in the database of single nucleotide polymorphisms (dbSNP).
Results:
A total of 21 SNVs were identified in the 10 genes examined. Variant classification and inheritance patterns are inconsistent with causality.
Conclusions:
The genetic basis for disease in the CS rabbit likely involves novel loci and is not associated with known causes of coronal synostosis.
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