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Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis : Likely Exclusion as the Loci of Origin
Joint Authors
Gallo, Phillip H.
Kathju, Sandeep
Mooney, Mark P.
Durham, Emily L.
Cray, James J.
Cooper, Gregory M.
Source
International Journal of Genomics
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-05-08
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Biology
Abstract EN
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.
American Psychological Association (APA)
Gallo, Phillip H.& Cray, James J.& Durham, Emily L.& Mooney, Mark P.& Cooper, Gregory M.& 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،Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-462013
Modern Language Association (MLA)
Gallo, Phillip H.…[et al.]. Molecular Analysis of Twist1 and FGF Receptors in a Rabbit Model of Craniosynostosis : Likely Exclusion as the Loci of Origin. International Journal of Genomics No. 2013 (2013), pp.1-10.
https://search.emarefa.net/detail/BIM-462013
American Medical Association (AMA)
Gallo, Phillip H.& Cray, James J.& Durham, Emily L.& Mooney, Mark P.& Cooper, Gregory M.& Kathju, Sandeep. 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. Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-462013
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-462013