Close
Help
Need Help?





JOURNAL

Gene Regulation and Systems Biology

551,512 Journal Article Views | Journal Analytics

Unique Sex-Based Approach Identifies Transcriptomic Biomarkers Associated with Non-Syndromic Craniosynostosis

Submit a Paper



Publication Date: 16 May 2012

Type: Original Research

Journal: Gene Regulation and Systems Biology

Citation: Gene Regulation and Systems Biology 2012:6 81-92

doi: 10.4137/GRSB.S9693

Abstract

Background: The premature fusion of one cranial suture, also referred to as non-syndromic craniosynostosis, most commonly involves premature fusion of the sagittal, coronal, or metopic sutures, in that order. Population-based epidemiological studies have found that the birth prevalence of single-suture craniosynostosis is both suture- and sex-dependent.

Methods: Transcriptomic data from 199 individuals with isolated sagittal (n = 100), unilateral coronal (n = 50), and metopic (n = 49) synostosis were compared against a control population (n = 50) to identify transcripts accounting for the different sex-based frequencies observed in this disease.

Results: Differential sex-based gene expression was classified as either gained (divergent) or lost (convergent) in affected individuals to identify transcripts related to disease predilection. Divergent expression was dependent on synostosis sub-type, and was extensive in metopic craniosynostosis specifically. Convergent microarray-based expression was independent of synostosis sub-type, with convergent expression of FBN2, IGF2BP3, PDE1C and TINAGL1 being the most robust across all synostosis sub-types.

Conclusions: Analysis of sex-based gene expression followed by validation by qRT-PCR identified that concurrent upregulation of FBN2 and IGF2BP3, and downregulation of TINAGL1 in craniosynostosis cases were all associated with increased RUNX2 expression and may represent a transcriptomic signature that can be used to characterize a subset of single-suture craniosynostosis cases.


Downloads

PDF  (777.59 KB PDF FORMAT)

RIS citation   (ENDNOTE, REFERENCE MANAGER, PROCITE, REFWORKS)

Supplementary Files 1  (43.49 KB ZIP FORMAT)

BibTex citation   (BIBDESK, LATEX)

XML






What Your Colleagues Say About Gene Regulation and Systems Biology
Since my first enquiry about publishing in Gene Regulation And Systems Biology until the last moment of completing all the steps for publishing my paper, I was always taken seriously as author.  All my questions and concerns were answered in a very professional way.  The review process was quick and very fair.  Reviewers stick to the facts and declare their points of view like a clear thread through the manuscript.  I always had an enthusiastic ...
Dr Jasmine Kharazmi (University of Zurich, Irchel, Zurich, Switzerland)
More Testimonials

Quick Links




Follow Us We make it easy to find new research papers.




SUBJECT HUBS
Author Survey Results
author_survey_results
All authors are surveyed after their articles are published. Authors are asked to rate their experience in a variety of areas, and their responses help us to monitor our performance. Presented here are their responses in some key areas. No 'poor' or 'very poor' responses were received; these are represented in the 'other' category.
See Our Results