Document Detail

Non-trisomic homeobox gene expression during craniofacial development in the Ts65Dn mouse model of Down syndrome.
MedLine Citation:
PMID:  23843306     Owner:  NLM     Status:  MEDLINE    
Trisomy 21 in humans causes cognitive impairment, craniofacial dysmorphology, and heart defects collectively referred to as Down syndrome. Yet, the pathophysiology of these phenotypes is not well understood. Craniofacial alterations may lead to complications in breathing, eating, and communication. Ts65Dn mice exhibit craniofacial alterations that model Down syndrome including a small mandible. We show that Ts65Dn embryos at 13.5 days gestation (E13.5) have a smaller mandibular precursor but a normal sized tongue as compared to euploid embryos, suggesting a relative instead of actual macroglossia originates during development. Neurological tissues were also altered in E13.5 trisomic embryos. Our array analysis found 155 differentially expressed non-trisomic genes in the trisomic E13.5 mandible, including 20 genes containing a homeobox DNA binding domain. Additionally, Sox9, important in skeletal formation and cell proliferation, was upregulated in Ts65Dn mandible precursors. Our results suggest trisomy causes altered expression of non-trisomic genes in development leading to structural changes associated with DS. Identification of genetic pathways disrupted by trisomy is an important step in proposing rational therapies at relevant time points to ameliorate craniofacial abnormalities in DS and other congenital disorders.
Cherie N Billingsley; Jared R Allen; Douglas D Baumann; Samantha L Deitz; Joshua D Blazek; Abby Newbauer; Andrew Darrah; Brad C Long; Brandon Young; Mark Clement; R W Doerge; Randall J Roper
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2013-07-10
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  161A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-07-29     Completed Date:  2013-10-17     Revised Date:  2014-08-04    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1866-74     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
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MeSH Terms
Biological Markers / metabolism
Cell Proliferation
Craniofacial Abnormalities / genetics*,  metabolism,  pathology
Disease Models, Animal*
Down Syndrome / genetics*
Embryo, Mammalian / metabolism*,  pathology
Gene Expression Profiling
Mandible / abnormalities,  metabolism,  pathology
Oligonucleotide Array Sequence Analysis
RNA, Messenger / genetics
Real-Time Polymerase Chain Reaction
Reverse Transcriptase Polymerase Chain Reaction
SOX9 Transcription Factor
Trisomy / genetics*
Grant Support
Reg. No./Substance:
0/Biological Markers; 0/RNA, Messenger; 0/SOX9 Transcription Factor; 0/Sox9 protein, mouse

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