Cho, KY
(2018)
MOLECULAR AND CELLULAR MECHANISMS UNDERLYING THE CLEFT PALATE PHENOTYPE OF TRPS1 MUTANT MICE.
Master's Thesis, University of Pittsburgh.
(Unpublished)
This is the latest version of this item.
Abstract
Trichorhinophalangeal syndrome (TRPS) is an autosomal dominantly inherited condition caused by heterozygous mutations of the TRPS1 gene. This gene codes for the GATA transcriptional factor TRPS1. Patients with TRPS exhibit multiple skeletal, hair, dental and craniofacial defects, including cleft palate. Using mouse models, one of the goals of this study is to characterize the skeletal abnormalities of Trps1-deficient mice. Skeletal staining using Alcian blue/Alizarin red revealed apparent underdevelopment of the zygomatic arch, sternum, vertebrae and anterior cranial base in Trps1-/- mice. We also found that the nose and mandible of Trps1-/- mice were significantly shorter. Additionally, cleft palate was detected in Trps1-/- mice. In order to understand the role of Trps1 in palatogenesis, immunohistochemistry was used to delineate the expression pattern of Trps1 protein in wildtype (WT) mouse tissues. We demonstrated that Trps1 was expressed in palatal shelf mesenchyme and epithelium, specifically at the medial edge epithelium. Along the anterior-posterior axis, epithelial Trps1 signal appeared to be increased in the posterior region of the palate. Lack of fusion observed in Trps1-/- mouse palatal shelves led us to examine proteins involved in the fusion process. Thus, immunohistochemistry was used to compare the expression of Tgfβ3, Twist1, and β-catenin in WT and Trps1-/- mice. Tgfβ3, β-catenin and Twist1 were all expressed in WT palatal epithelium as well but were downregulated in Trps1-/- palatal epithelium. In summary, Trps1 plays a vital role in proper skeletal and craniofacial development, including palatal shelf fusion. Trps1 is also involved in the regulation of other proteins required for palatal fusion.
Share
| Citation/Export: |
|
| Social Networking: |
|
Details
| Item Type: |
University of Pittsburgh ETD
|
| Status: |
Unpublished |
| Creators/Authors: |
|
| ETD Committee: |
|
| Date: |
29 May 2018 |
| Date Type: |
Publication |
| Defense Date: |
14 May 2018 |
| Approval Date: |
29 May 2018 |
| Submission Date: |
22 May 2018 |
| Access Restriction: |
No restriction; Release the ETD for access worldwide immediately. |
| Number of Pages: |
54 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Dental Medicine > Dental Science |
| Degree: |
MDS - Master of Dental Science |
| Thesis Type: |
Master's Thesis |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
TRPS1; trichorhinophalangeal syndrome; palatal development; craniofacial; palatal fusion; secondary palate |
| Date Deposited: |
29 May 2018 21:07 |
| Last Modified: |
29 May 2018 21:07 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/34558 |
Available Versions of this Item
-
MOLECULAR AND CELLULAR MECHANISMS UNDERLYING THE CLEFT PALATE PHENOTYPE OF TRPS1 MUTANT MICE. (deposited 29 May 2018 21:07)
[Currently Displayed]
Metrics
Monthly Views for the past 3 years
Plum Analytics
Actions (login required)
 |
View Item |
![[feed]](/images/feed-icon-32x32.png){kind=icon}