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J. Cardiovasc. Dev. Dis. 2015, 2(3), 190-199; doi:10.3390/jcdd2030190

Preliminary Evidence for Aortopathy and an X-Linked Parent-of-Origin Effect on Aortic Valve Malformation in a Mouse Model of Turner Syndrome

1
The Heart Institute, Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45208, USA
2
Mill Hill Laboratory, Francis Crick Institute, London NW7 1AA, UK
3
MRC Centre for Neuropsychiatric Genetics and Genomics and Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK
4
Neuroscience and Mental Health Research Institute, Schools of Medicine and Psychology, Cardiff University, Cardiff CF24 4HQ, UK
*
Author to whom correspondence should be addressed.
Academic Editor: Andy Wessels
Received: 5 June 2015 / Revised: 7 July 2015 / Accepted: 7 July 2015 / Published: 10 July 2015
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Abstract

Turner syndrome (TS), most frequently caused by X-monosomy (45,X), is characterized in part by cardiovascular abnormalities, including aortopathy and bicuspid aortic valve (BAV). There is a need for animal models that recapitulate the cardiovascular manifestations of TS. Extracellular matrix (ECM) organization and morphometrics of the aortic valve and proximal aorta were examined in adult 39,XO mice (where the parental origin of the single X was paternal (39,XPO) or maternal (39,XMO)) and 40,XX controls. Aortic valve morphology was normal (tricuspid) in all of the 39,XPO and 40,XX mice studied, but abnormal (bicuspid or quadricuspid) in 15% of 39,XMO mice. Smooth muscle cell orientation in the ascending aorta was abnormal in all 39,XPO and 39,XMO mice examined, but smooth muscle actin was decreased in 39,XMO mice only. Aortic dilation was present with reduced penetrance in 39,XO mice. The 39,XO mouse demonstrates aortopathy and an X-linked parent-of-origin effect on aortic valve malformation, and the candidate gene FAM9B is polymorphically expressed in control and diseased human aortic valves. The 39,XO mouse model may be valuable for examining the mechanisms underlying the cardiovascular findings in TS, and suggest there are important genetic modifiers on the X chromosome that modulate risk for nonsyndromic BAV and aortopathy. View Full-Text
Keywords: cardiovascular malformation; valves; heritability; disease models; genomic imprinting; Xlr3b; FAM9B; 39,XO cardiovascular malformation; valves; heritability; disease models; genomic imprinting; Xlr3b; FAM9B; 39,XO
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Hinton, R.B.; Opoka, A.M.; Ojarikre, O.A.; Wilkinson, L.S.; Davies, W. Preliminary Evidence for Aortopathy and an X-Linked Parent-of-Origin Effect on Aortic Valve Malformation in a Mouse Model of Turner Syndrome. J. Cardiovasc. Dev. Dis. 2015, 2, 190-199.

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