Genome and epigenome analysis of monozygotic twins discordant for congenital heart disease

Lyu, Guoliang; Zhang, Chao; Ling, Te; Li, Rui; Zong, Le; Guan, Yiting; Huang, Xiaoke; Sun, Lei; Zhang, Lijun; Li, Cheng; Nie, Yu; Tao, Wei

doi:10.1186/s12864-018-4814-7

Cited by 41 publications

(44 citation statements)

References 60 publications

(64 reference statements)

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“…Mapping a 5.8 Mb deletion in a patient with CHD, Nakamura et al [117] identified COUP-TFII as a putative candidate gene. Association of COUP-TFII to CHD was later confirmed by other groups [118][119][120][121][122]. Interestingly, deletion of 15q is not the only possible mutation happening in CHD in the COUP-TFII locus but single point missense mutations of the NR are sufficient to induce the pathogenic phenotype [120,122].…”

Section: Cardiovascular Diseasesmentioning

confidence: 80%

“…Interestingly, deletion of 15q is not the only possible mutation happening in CHD in the COUP-TFII locus but single point missense mutations of the NR are sufficient to induce the pathogenic phenotype [120,122]. Recently, hyper-methylation of the promoter has been associated with the development of the double-outlet right ventricle [119], and a reduction in COUP-TFII expression, a consequence of polymorphisms or single point mutations of FOXC2, causes varicosity and valve failure in veins [123].…”

Section: Cardiovascular Diseasesmentioning

confidence: 99%

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COUP-TFII in Health and Disease

Polvani

Pepe

Milani

et al. 2019

Cells

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The nuclear receptors (NRs) belong to a vast family of evolutionary conserved proteins acting as ligand-activated transcription factors. Functionally, NRs are essential in embryogenesis and organogenesis and in adulthood they are involved in almost every physiological and pathological process. Our knowledge of NRs action has greatly improved in recent years, demonstrating that both their expression and activity are tightly regulated by a network of signaling pathways, miRNA and reciprocal interactions. The Chicken Ovalbumin Upstream Promoter Transcription Factor II (COUP-TFII, NR2F2) is a NR classified as an orphan due to the lack of a known natural ligand. Although its expression peaks during development, and then decreases considerably, in adult tissues, COUP-TFII is an important regulator of differentiation and it is variably implicated in tissues homeostasis. As such, alterations of its expression or its transcriptional activity have been studied and linked to a spectrum of diseases in organs and tissues of different origins. Indeed, an altered COUP-TFII expression and activity may cause infertility, abnormality in the vascular system and metabolic diseases like diabetes. Moreover, COUP-TFII is actively investigated in cancer research but its role in tumor progression is yet to be fully understood. In this review, we summarize the current understanding of COUP-TFII in healthy and pathological conditions, proposing an updated and critical view of the many functions of this NR.

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Section: Cardiovascular Diseasesmentioning

confidence: 80%

Section: Cardiovascular Diseasesmentioning

confidence: 99%

COUP-TFII in Health and Disease

Polvani

Pepe

Milani

et al. 2019

Cells

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“…Although arising from one zygote and comprising the same genomic information, MZ twins are often discordant in the development and manifestation of (congenital) diseases, such as heart (AlRais et al, 2011;Lyu et al, 2018;Vinograd et al, 2013), Fig. 3.…”

Section: Opportunities For Experimental Polyembryony In Biomedical Rementioning

confidence: 99%

Multiplying embryos: experimental monozygotic polyembryony in mammals and its uses

Casser

Israel²,

Boiani³

2019

Int. J. Dev. Biol.

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Monozygotic (MZ) polyembryony is a strategy to increase the output of a single zygote, thereby producing more offspring from a limited number of oocytes. However, MZ twins and multiples (multiplets) of mammals occur rarely in nature, while their generation has been more successful experimentally. In this work, we review some of the methodological, biological and field aspects of experimental MZ polyembryony in mammals. First attempts of mechanical bisection of 2-cell stage rodent embryos provided a proof-of-principle for the survival and independent development of both blastomeres. Subsequently, experiments in other species, particularly sheep and bovine, allowed 2 methods of embryo multiplication to become routine: the separation or biopsy of blastomeres from cleavage-stage embryos and the bisection of morulae and blastocysts. We discuss how the preferable stage of bisection and the success rate can be species-specific. The scope that profited most from experimental MZ polyembryony is the production of additional copies of elite livestock individuals, the reduction of interindividual variation in test groups and the possibility of investigating discordant phenotypic traits in the same genomic background, for instance, comparing an affected twin with its healthy co-twin. By contrast, the original motivation for experimental polyembryony – efficiently generating more offspring out of the same zygote – has not been fulfilled yet. Although embryo splitting leads to an increase in quantity, there is a loss of embryo quality, thus, there is no real gain from artificially generated embryos (yet) in the field of medically assisted reproduction. In conclusion, mammalian zygotes have the regulative capacity to be polyembryonic, but this is not obligate.

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“…In any case, since CITED2 cooperates with other transcription factors important for cardiovascular development, such as ISL1 and SMAD2/3 [151,152], the ability of CITED2 mutant proteins to co-activate these factors should also be investigated. Apart from CITED2, only an aberrant hypomethylation of the CITED1 upstream regulatory regions has been detected in monozygotic twins with double outlet right ventricle (DORV), but the role of CITED1 in the pathology remains to be ascertained [153]. To date, no reports have established any association between CITED4 dysfunction and CHD.…”

Section: Of 27mentioning

confidence: 99%

CITED Proteins in the Heart of Pluripotent Cells and in Heart’s Full Potential

2019

Regen Med Front.

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The CITED family of transcriptional modulators plays multiple roles in the development of vertebrates. These proteins are characterized by the conservation of a carboxy-terminal domain which defines this family and has a high affinity for the transcriptional co-activators CBP/p300. In humans, mutations in some CITED genes or deregulation of their expression are associated with developmental anomalies. In particular, CITED2 dysfunction has been associated with congenital heart disease.Although most studies have reported the critical function of CITED proteins during development, there is increasing evidence supporting an important role for these proteins in physiological functions of adult organisms and pathologies such as cardiomyopathies and cancer. In addition, recent studies have pointed out the involvement of CITED proteins in embryonic and adult stem cells self-renewal, and cell fate decisions. Here, we present an overview of the CITED transcriptional modulators, their protein interactors and gene networks, with an emphasis on their importance in pluripotent stem cells and cardiogenesis.

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Genome and epigenome analysis of monozygotic twins discordant for congenital heart disease

Cited by 41 publications

References 60 publications

COUP-TFII in Health and Disease

COUP-TFII in Health and Disease

Multiplying embryos: experimental monozygotic polyembryony in mammals and its uses

CITED Proteins in the Heart of Pluripotent Cells and in Heart’s Full Potential

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