The Bucentaur (BCNT) protein family: a long-neglected class of essential proteins required for chromatin/chromosome organization and function

Messina, Giovanni; Celauro, Emanuele; Atterrato, Maria Teresa; Giordano, Elena; Iwashita, Shintaro; Dimitri, Patrizio

doi:10.1007/s00412-014-0503-8

Cited by 19 publications

(29 citation statements)

References 55 publications

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“…Cfdp1 is 139,815 bp long with 7 exons and 6 introns and maps to chromosome 16 in the band 16q22.2-q22.3, where it is proximally and distally flanked by Bcar1 and Tmem170A genes, respectively12131415. Cfdp1 expression has been detected in a wide range of human tissues, including cancer tissues.…”

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confidence: 99%

“…Cfdp1 expression has been detected in a wide range of human tissues, including cancer tissues. It encodes a protein of 299 amino acids, called CFDP1, belonging to the evolutionarily conserved family of Bucentaur (BCNT) proteins12131415. The CFDP1 protein is characterized by an 82-amino acid region located at the C-terminus, called the BCNT-C domain, which is highly conserved among almost all eukaryotes, while the N-terminal region is more divergent121314.…”

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confidence: 99%

“…The functions of Cfdp1 orthologs have been investigated in different species1213. In particular, the observation that mouse Cfdp1 is expressed during tooth development suggested an involvement of this gene in craniofacial development1516.…”

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confidence: 99%

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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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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 craniofacial development protein 1 (CFDP1) is a 299 amino acid long polypeptide which belongs to the evolutionarily conserved family of Bucentaur (BCNT) proteins ( Fig. 1 ) characterized by a highly conserved C- terminal BCNT domain 1 2 . Despite its widespread distribution in animals and plants, the function(s) and mechanism(s) of action of BCNT proteins need to be clarified.…”

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confidence: 99%

Expression of human Cfdp1 gene in Drosophila reveals new insights into the function of the evolutionarily conserved BCNT protein family

Messina

Atterrato

Fanti

et al. 2016

Sci Rep

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The Bucentaur (BCNT) protein family is widely distributed in eukaryotes and is characterized by a highly conserved C-terminal domain. This family was identified two decades ago in ruminants, but its role(s) remained largely unknown. Investigating cellular functions and mechanism of action of BCNT proteins is challenging, because they have been implicated in human craniofacial development. Recently, we found that YETI, the D. melanogaster BCNT, is a chromatin factor that participates to H2A.V deposition. Here we report the effects of in vivo expression of CFDP1, the human BCNT protein, in Drosophila melanogaster. We show that CFDP1, similarly to YETI, binds to chromatin and its expression results in a wide range of abnormalities highly reminiscent of those observed in Yeti null mutants. This indicates that CFDP1 expressed in flies behaves in a dominant negative fashion disrupting the YETI function. Moreover, GST pull-down provides evidence indicating that 1) both YETI and CFDP1 undergo homodimerization and 2) YETI and CFDP1 physically interact each other by forming inactive heterodimers that would trigger the observed dominant-negative effect. Overall, our findings highlight unanticipated evidences suggesting that homodimerization mediated by the BCNT domain is integral to the chromatin functions of BCNT proteins.

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“…This conjecture is supported by studies on CFDP1, a member of the evolutionarily conserved BCNT protein family that participates in the exchange of H2A with variant H2A in different species 45. In fact, CFDP1 interacts with subunits of the SRCAP complex and has been also implicated in craniofacial development 46 47…”

Section: The Molecular Bases Of Fhsmentioning

confidence: 87%

When chromatin organisation floats astray: theSrcapgene and Floating–Harbor syndrome

2016

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Floating-Harbor syndrome (FHS) is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. FHS was first described at Boston's Floating Hospital 42 years ago, but the causative gene, called Srcap, was identified only recently. Truncated SRCAP protein variants have been implicated in the mechanism of FHS, but the molecular bases underlying the disease must still be elucidated and investigating the molecular defects leading to the onset of FHS remains a challenge. Here we comprehensively review recent work and provide alterative hypotheses to explain how the Srcap truncating mutations lead to the onset of FHS.

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The Bucentaur (BCNT) protein family: a long-neglected class of essential proteins required for chromatin/chromosome organization and function

Cited by 19 publications

References 55 publications

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

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

Expression of human Cfdp1 gene in Drosophila reveals new insights into the function of the evolutionarily conserved BCNT protein family

When chromatin organisation floats astray: theSrcapgene and Floating–Harbor syndrome

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