Craniofacial shape variation in Twist1+/- mutant mice

Trish E. Parsons, Seth M. Weinberg, Kameron Khaksarfard, R. Nicole Howie, Mohammed Elsayed Elsalanty, Jack C Yu, James J. Cray

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Craniosynostosis (CS) is a relatively common birth defect resulting from the premature fusion of one or more cranial sutures. Human genetic studies have identified several genes in association with CS. One such gene that has been implicated in both syndromic (Saethre-Chotzen syndrome) and nonsyndromic forms of CS in humans is TWIST1. In this study, a heterozygous Twist1 knock out (Twist1+/-) mouse model was used to study the craniofacial shape changes associated with the partial loss of function. A geometric morphometric approach was used to analyze landmark data derived from microcomputed tomography scans to compare craniofacial shape between 17 Twist1+/- mice and 26 of their Twist1+/+ (wild type) littermate controls at 15 days of age. The results show that despite the purported wide variation in synostotic severity, Twist1+/- mice have a consistent pattern of craniofacial dysmorphology affecting all major regions of the skull. Similar to Saethre-Chotzen, the calvarium is acrocephalic and wide with an overall brachycephalic shape. Mutant mice also exhibited a shortened cranial base and a wider and shorted face, consistent with coronal CS associated phenotypes. The results suggest that these differences are at least partially the direct result of the Twist1 haploinsufficiency on the developing craniofacial skeleton. This study provides a quantitative phenotype complement to the developmental and molecular genetic research previously done on Twist1. These results can be used to generate further hypotheses about the effect of Twist1 and premature suture fusion on the entire craniofacial skeleton.

Original languageEnglish (US)
Pages (from-to)826-833
Number of pages8
JournalAnatomical Record
Volume297
Issue number5
DOIs
StatePublished - Jan 1 2014

Fingerprint

Craniosynostoses
sutures
mutants
skeleton
phenotype
mice
Skull
Skeleton
micro-computed tomography
gene
Cranial Sutures
Acrocephalosyndactylia
skull
Phenotype
Haploinsufficiency
X-Ray Microtomography
molecular genetics
Genetic Research
tomography
defect

Keywords

  • Craniosynostosis
  • Geometric morphometrics
  • Mouse
  • Saethre-Chotzen
  • Twist1

ASJC Scopus subject areas

  • Anatomy
  • Biotechnology
  • Histology
  • Ecology, Evolution, Behavior and Systematics

Cite this

Parsons, T. E., Weinberg, S. M., Khaksarfard, K., Howie, R. N., Elsalanty, M. E., Yu, J. C., & Cray, J. J. (2014). Craniofacial shape variation in Twist1+/- mutant mice. Anatomical Record, 297(5), 826-833. https://doi.org/10.1002/ar.22899

Craniofacial shape variation in Twist1+/- mutant mice. / Parsons, Trish E.; Weinberg, Seth M.; Khaksarfard, Kameron; Howie, R. Nicole; Elsalanty, Mohammed Elsayed; Yu, Jack C; Cray, James J.

In: Anatomical Record, Vol. 297, No. 5, 01.01.2014, p. 826-833.

Research output: Contribution to journalArticle

Parsons, TE, Weinberg, SM, Khaksarfard, K, Howie, RN, Elsalanty, ME, Yu, JC & Cray, JJ 2014, 'Craniofacial shape variation in Twist1+/- mutant mice', Anatomical Record, vol. 297, no. 5, pp. 826-833. https://doi.org/10.1002/ar.22899
Parsons TE, Weinberg SM, Khaksarfard K, Howie RN, Elsalanty ME, Yu JC et al. Craniofacial shape variation in Twist1+/- mutant mice. Anatomical Record. 2014 Jan 1;297(5):826-833. https://doi.org/10.1002/ar.22899
Parsons, Trish E. ; Weinberg, Seth M. ; Khaksarfard, Kameron ; Howie, R. Nicole ; Elsalanty, Mohammed Elsayed ; Yu, Jack C ; Cray, James J. / Craniofacial shape variation in Twist1+/- mutant mice. In: Anatomical Record. 2014 ; Vol. 297, No. 5. pp. 826-833.
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