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