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000137432 0247_ $$2doi$$a10.1161/CIRCRESAHA.115.303300
000137432 0247_ $$2pmid$$apmid:24748541
000137432 0247_ $$2ISSN$$a0009-7330
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000137432 037__ $$aDZNE-2020-03754
000137432 041__ $$aEnglish
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000137432 1001_ $$0P:(DE-HGF)0$$aDykes, Iain M$$b0
000137432 245__ $$aHIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.
000137432 260__ $$aNew York, NY$$bAssoc.$$c2014
000137432 264_1 $$2Crossref$$3print$$bOvid Technologies (Wolters Kluwer Health)$$c2014-06-20
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000137432 520__ $$a22q11 deletion syndrome arises from recombination between low-copy repeats on chromosome 22. Typical deletions result in hemizygosity for TBX1 associated with congenital cardiovascular disease. Deletions distal to the typically deleted region result in a similar cardiac phenotype but lack in extracardiac features of the syndrome, suggesting that a second haploinsufficient gene maps to this interval.The transcription factor HIC2 is lost in most distal deletions, as well as in a minority of typical deletions. We used mouse models to test the hypothesis that HIC2 hemizygosity causes congenital heart disease.We created a genetrap mouse allele of Hic2. The genetrap reporter was expressed in the heart throughout the key stages of cardiac morphogenesis. Homozygosity for the genetrap allele was embryonic lethal before embryonic day E10.5, whereas the heterozygous condition exhibited a partially penetrant late lethality. One third of heterozygous embryos had a cardiac phenotype. MRI demonstrated a ventricular septal defect with over-riding aorta. Conditional targeting indicated a requirement for Hic2 within the Nkx2.5+ and Mesp1+ cardiovascular progenitor lineages. Microarray analysis revealed increased expression of Bmp10.Our results demonstrate a novel role for Hic2 in cardiac development. Hic2 is the first gene within the distal 22q11 interval to have a demonstrated haploinsufficient cardiac phenotype in mice. Together our data suggest that HIC2 haploinsufficiency likely contributes to the cardiac defects seen in distal 22q11 deletion syndrome.
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000137432 650_7 $$2NLM Chemicals$$aAdaptor Proteins, Signal Transducing
000137432 650_7 $$2NLM Chemicals$$aBmp10 protein, mouse
000137432 650_7 $$2NLM Chemicals$$aBone Morphogenetic Proteins
000137432 650_7 $$2NLM Chemicals$$aCRKL protein
000137432 650_7 $$2NLM Chemicals$$aHIC2 protein, human
000137432 650_7 $$2NLM Chemicals$$aHIC2 protein, mouse
000137432 650_7 $$2NLM Chemicals$$aHic1 protein, mouse
000137432 650_7 $$2NLM Chemicals$$aKruppel-Like Transcription Factors
000137432 650_7 $$2NLM Chemicals$$aNuclear Proteins
000137432 650_7 $$2NLM Chemicals$$aT-Box Domain Proteins
000137432 650_7 $$2NLM Chemicals$$aTbx1 protein, mouse
000137432 650_7 $$2NLM Chemicals$$aTumor Suppressor Proteins
000137432 650_7 $$0EC 2.7.11.24$$2NLM Chemicals$$aMapk1 protein, mouse
000137432 650_7 $$0EC 2.7.11.24$$2NLM Chemicals$$aMitogen-Activated Protein Kinase 1
000137432 650_2 $$2MeSH$$a22q11 Deletion Syndrome: etiology
000137432 650_2 $$2MeSH$$a22q11 Deletion Syndrome: genetics
000137432 650_2 $$2MeSH$$aAdaptor Proteins, Signal Transducing: genetics
000137432 650_2 $$2MeSH$$aAdaptor Proteins, Signal Transducing: physiology
000137432 650_2 $$2MeSH$$aAnimals
000137432 650_2 $$2MeSH$$aBone Morphogenetic Proteins: physiology
000137432 650_2 $$2MeSH$$aDisease Models, Animal
000137432 650_2 $$2MeSH$$aGene Expression Regulation
000137432 650_2 $$2MeSH$$aHeart: embryology
000137432 650_2 $$2MeSH$$aHeart Defects, Congenital: etiology
000137432 650_2 $$2MeSH$$aHumans
000137432 650_2 $$2MeSH$$aKruppel-Like Transcription Factors: genetics
000137432 650_2 $$2MeSH$$aKruppel-Like Transcription Factors: physiology
000137432 650_2 $$2MeSH$$aMice
000137432 650_2 $$2MeSH$$aMitogen-Activated Protein Kinase 1: genetics
000137432 650_2 $$2MeSH$$aMitogen-Activated Protein Kinase 1: physiology
000137432 650_2 $$2MeSH$$aMorphogenesis
000137432 650_2 $$2MeSH$$aMutagenesis
000137432 650_2 $$2MeSH$$aNuclear Proteins: genetics
000137432 650_2 $$2MeSH$$aNuclear Proteins: physiology
000137432 650_2 $$2MeSH$$aT-Box Domain Proteins: genetics
000137432 650_2 $$2MeSH$$aT-Box Domain Proteins: physiology
000137432 650_2 $$2MeSH$$aTumor Suppressor Proteins: genetics
000137432 650_2 $$2MeSH$$aTumor Suppressor Proteins: physiology
000137432 7001_ $$0P:(DE-HGF)0$$avan Bueren, Kelly Lammerts$$b1
000137432 7001_ $$0P:(DE-HGF)0$$aAshmore, Rebekah J$$b2
000137432 7001_ $$0P:(DE-HGF)0$$aFloss, Thomas$$b3
000137432 7001_ $$0P:(DE-2719)2000028$$aWurst, Wolfgang$$b4$$udzne
000137432 7001_ $$0P:(DE-HGF)0$$aSzumska, Dorota$$b5
000137432 7001_ $$0P:(DE-HGF)0$$aBhattacharya, Shoumo$$b6
000137432 7001_ $$0P:(DE-HGF)0$$aScambler, Peter J$$b7$$eCorresponding author
000137432 77318 $$2Crossref$$3journal-article$$a10.1161/circresaha.115.303300$$b : Ovid Technologies (Wolters Kluwer Health), 2014-06-20$$n1$$p23-31$$tCirculation Research$$v115$$x0009-7330$$y2014
000137432 773__ $$0PERI:(DE-600)1467838-X$$a10.1161/CIRCRESAHA.115.303300$$gVol. 115, no. 1, p. 23 - 31$$n1$$p23-31$$q115:1<23 - 31$$tCirculation research$$v115$$x0009-7330$$y2014
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