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Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin

Gallo, Phillip H. and Cray, James J. and Durham, Emily L. and Mooney, Mark P. and Cooper, Gregory M. and Kathju, Sandeep (2013) Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin. International Journal of Genomics, 2013. pp. 1-10. ISSN 2314-436X

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Craniosynostosis is the premature fusion of the cranial vault sutures. We have previously described a colony of rabbits with a heritable pattern of nonsyndromic, coronal suture synostosis; however, the underlying genetic defect remains unknown. We now report a molecular analysis to determine if four genes implicated in human craniosynostosis, TWIST1 and fibroblast growth factor receptors 1–3 (FGFR1–3), could be the loci of the causative mutation in this unique rabbit model. Single nucleotide polymorphisms (SNPs) were identified within the Twist1, FGFR1, and FGFR2 genes, and the allelic patterns of these silent mutations were examined in 22 craniosynostotic rabbits. SNP analysis of the Twist1, FGFR1, and FGFR2 genes indicated that none were the locus of origin of the craniosynostotic phenotype. In addition, no structural mutations were identified by direct sequence analysis of Twist1 and FGFR3 cDNAs. These data indicate that the causative locus for heritable craniosynostosis in this rabbit model is not within the Twist1, FGFR1, and FGFR2 genes. Although a locus in intronic or flanking sequences of FGFR3 remains possible, no direct structural mutation was identified for FGFR3.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Gallo, Phillip H.
Cray, James J.
Durham, Emily L.
Mooney, Mark
Cooper, Gregory M.
Date: 2013
Date Type: Publication
Journal or Publication Title: International Journal of Genomics
Volume: 2013
Publisher: Hindawi Limited
Page Range: pp. 1-10
DOI or Unique Handle: 10.1155/2013/305971
Schools and Programs: Dietrich School of Arts and Sciences > Anthropology
Refereed: Yes
ISSN: 2314-436X
Official URL:
Article Type: Research Article
Date Deposited: 13 May 2020 16:46
Last Modified: 13 May 2020 16:46


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