Molecular Basis of Williams-Beuren Syndrome: TFII-I Regulated Targets Involved in Craniofacial Development

Makeyev, Aleksandr V.; Bayarsaihan, Dashzeveg

doi:10.1597/09-093

Cited by 28 publications

(31 citation statements)

References 49 publications

(54 reference statements)

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“…Thus, the identification of new factors required for chromatin dynamics and organization can expand our understanding of mechanisms underpinning developmental diseases. Several studies implicate CFDP1, the human ortholog of YETI, in osteogenesis and craniofacial development (Diekwisch et al, 1999;Diekwisch et al, 2002;Thisse, 2004;Wu et al, 2008;Bustos-Valenzuela et al, 2011;Makeyev and Bayarsaihan, 2011). Future research can provide a better understanding of BCNT protein functions in chromatin organization and yield more insight into their role in developmental disorders.…”

Section: Discussionmentioning

confidence: 99%

“…Third, the Zebrafish BCNT gene, called Rltpr, is developmentally expressed in the branchial arches that will give rise to the craniofacial structures (Thisse, 2004). Finally, the human Cfdp1 gene has been shown to be a target of TFII-I transcription factors, which in turn are encoded by genes suggested to be primary candidates for Williams-Beuren disease, which causes -among others symptoms -craniofacial abnormalities (Makeyev and Bayarsaihan, 2011).…”

Section: Introductionmentioning

confidence: 99%

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Yeti, aDrosophila melanogasteressential gene, encodes a protein required for chromatin organization

Messina

Damia

Fanti

et al. 2014

Journal of Cell Science

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The evolutionarily conserved family of Bucentaur (BCNT) proteins exhibits a widespread distribution in animal and plants, yet its biological role remains largely unknown. Using Drosophila melanogaster as a model organism, we investigated the in vivo role of the Drosophila BCNT member called YETI. We report that loss of YETI causes lethality before pupation and defects in higherorder chromatin organization, as evidenced by severe impairment in the association of histone H2A.V, nucleosomal histones and epigenetic marks with polytene chromosomes. We also find that YETI binds to polytene chromosomes through its conserved BCNT domain and interacts with the histone variant H2A.V, HP1a and Domino-A (DOM-A), the ATPase subunit of the DOM/Tip60 chromatin remodeling complex. Furthermore, we identify YETI as a downstream target of the Drosophila DOM-A. On the basis of these results, we propose that YETI interacts with H2A.Vexchanging machinery, as a chaperone or as a new subunit of the DOM/Tip60 remodeling complex, and acts to regulate the accumulation of H2A.V at chromatin sites. Overall, our findings suggest an unanticipated role of YETI protein in chromatin organization and provide, for the first time, mechanistic clues on how BCNT proteins control development in multicellular organisms.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Yeti, aDrosophila melanogasteressential gene, encodes a protein required for chromatin organization

Messina

Damia

Fanti

et al. 2014

Journal of Cell Science

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“…Bayarsaihan and colleagues have identified several TFII-I target genes that are potentially involved in craniofacial defects and therefore could explain some of these phenotypes. Moreover, these analyses also revealed that TFII-I potentially regulates a number of genes that encode modifiers of histones and chromatin, which might explain its general role in animal development (Chimge et al, 2008; Makeyev and Bayarsaihan, 2009; Makeyev and Bayarsaihan, 2011). …”

Section: Structural Properties Of Tfii-imentioning

confidence: 94%

Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10years later

Roy

2012

Gene

119

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Exactly twenty years ago TFII-I was discovered as a biochemical entity that was able to bind to and function via a core promoter element called the Initiator (Inr). Since then several different properties of this signal-induced multifunctional factor were discovered. Here I update these ever expanding functions of TFII-I--focusing primarily on the last ten years since the first review appeared in this journal.

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“…In particular, the observation that mouse Cfdp1 is expressed during tooth development suggested an involvement of this gene in craniofacial development1516. Further evidence linked the CFDP1 proteins to craniofacial development and osteogenesis in vertebrates17181920, although specific syndromes caused by mutations of Cfdp1 have not yet been identified.…”

mentioning

confidence: 99%

The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization

Messina

Atterrato

Prozzillo

et al. 2017

Sci Rep

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The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family. Craniofacial malformations are developmental disorders of particular biomedical and clinical interest, because they represent the main cause of infant mortality and disability in humans, thus it is important to understand the cellular functions and mechanism of action of the CFDP1 protein. We have carried out a multi-disciplinary study, combining cell biology, reverse genetics and biochemistry, to provide the first in vivo characterization of CFDP1 protein functions in human cells. We show that CFDP1 binds to chromatin and interacts with subunits of the SRCAP chromatin remodeling complex. An RNAi-mediated depletion of CFDP1 in HeLa cells affects chromosome organization, SMC2 condensin recruitment and cell cycle progression. Our findings provide new insight into the chromatin functions and mechanisms of the CFDP1 protein and contribute to our understanding of the link between epigenetic regulation and the onset of human complex developmental disorders.

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Molecular Basis of Williams-Beuren Syndrome: TFII-I Regulated Targets Involved in Craniofacial Development

Abstract: The results suggest that transcriptional regulation of these genes by TFII-I proteins could provide a possible genotype-phenotype link in Williams-Beuren syndrome.

Cited by 28 publications

References 49 publications

Yeti, aDrosophila melanogasteressential gene, encodes a protein required for chromatin organization

Yeti, aDrosophila melanogasteressential gene, encodes a protein required for chromatin organization

Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10years later

The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization

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