Sh3Pxd2bnee-/-マウス：Frank-ter-Haar症候群における新たな発生学的特徴を明らかにする魅力的なモデル

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Updated: Jul 7, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Julika Huber^1,2, Siddharth Menon^1,3, Michael Lopez-Torres¹

¹Department of Surgery, Division of Plastic and Reconstructive Surgery, Stanford University School of Medicine, Stanford, CA, USA.

Development (Cambridge, England)

|January 12, 2026

Abstract:

Frank-ter-Haar syndrome (FTHS) is an inherited disease caused by mutations in the SH3PXD2B gene, encoding for the podosomal adaptor protein TKS4. FTHS is characterized by multiple skeletal abnormalities, developmental delay and severe craniofacial dysmorphology. This study characterized in-depth the calvarial phenotype of a mouse model of FTHS and investigates the potential underlying molecular and transcriptomic mechanisms. The Sh3Pxd2bnee-/- mouse presents with craniofacial malformations, disrupted suture patterning, decreased osteoregeneration, cell proliferation and migration both in vitro and in vivo and impaired podosome formation. Transcriptomic analysis revealed downregulation of genes involved in ribosome biogenesis. Moreover, ribosomal RNA accumulates in cell protrusions of migrating cells. We established that the craniofacial phenotype of the Sh3Pxd2bnee-/- mouse is governed by impaired cell migration and proliferation due to dysfunctional podosome formation, particularly in neural-crest derived tissues. Transcriptomic and molecular data suggest altered ribosome-related processes, though further investigation is needed to clarify the underlying mechanisms.

キーワード:

頭蓋顔面発生 Frank-ter-Haar症候群神経堤細胞遊走ポドソームリボソーム生合成縫合パターン形成

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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