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Sutures of the Skull01:22

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The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
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Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes.

Samantha Lapehn1, Jonas A Gustafson1, Andrew E Timms1

  • 1Center for Developmental Biology & Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA.

International Journal of Molecular Sciences
|March 29, 2023
PubMed
Summary

Craniosynostosis, a premature suture closure, shows distinct gene expression patterns based on skull suture affected and fetal sex. This study identified specific differentially expressed genes (DEGs) and pathways linked to craniosynostosis phenotypes.

Keywords:
RNA sequencingcraniosynostosishomeoboxtranscriptome

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Craniosynostosis involves premature fusion of skull sutures, impacting cranial development.
  • The genetic and molecular underpinnings of single-suture craniosynostosis remain incompletely understood.
  • Understanding gene expression differences can reveal disease mechanisms.

Purpose of the Study:

  • To investigate gene expression profiles in primary calvarial cells from patients with four single-suture craniosynostosis phenotypes.
  • To compare gene expression between craniosynostosis subtypes and control groups.
  • To explore potential sex-based differences in gene expression related to craniosynostosis.

Main Methods:

  • RNA sequencing was performed on primary calvarial cell lines derived from 388 craniosynostosis cases and 85 controls.
  • Linear models were used to identify differentially expressed genes (DEGs) associated with coronal, sagittal, metopic, and lambdoid craniosynostosis.
  • Sex-stratified analyses and pathway analyses (KEGG) were conducted.

Main Results:

  • Significant numbers of DEGs were identified for each phenotype: 72 (coronal), 90 (sagittal), 103 (metopic), and 33 (lambdoid).
  • Sex-stratified analysis revealed a higher number of DEGs in males (98) compared to females (4).
  • Sixteen homeobox (HOX) genes were among the DEGs, and three transcription factors (SUZ12, EZH2, AR) showed significant regulation of DEGs.

Conclusions:

  • Distinct molecular mechanisms underlie different craniosynostosis phenotypes.
  • Fetal sex appears to influence gene expression patterns in craniosynostosis.
  • The findings provide insights into the genetic basis of craniosynostosis and potential therapeutic targets.