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Article ; Online: <i>Drosophila</i> insulator proteins exhibit in vivo liquid-liquid phase separation properties.

Amankwaa, Bright / Schoborg, Todd / Labrador, Mariano

Life science alliance

2022 Volume 5, Issue 12

Abstract: Mounting evidence implicates liquid-liquid phase separation (LLPS), the condensation of biomolecules into liquid-like droplets in the formation and dissolution of membraneless intracellular organelles (MLOs). Cells use MLOs or condensates for various ... ...

Abstract	Mounting evidence implicates liquid-liquid phase separation (LLPS), the condensation of biomolecules into liquid-like droplets in the formation and dissolution of membraneless intracellular organelles (MLOs). Cells use MLOs or condensates for various biological processes, including emergency signaling and spatiotemporal control over steady-state biochemical reactions and heterochromatin formation. Insulator proteins are architectural elements involved in establishing independent domains of transcriptional activity within eukaryotic genomes. In Drosophila, insulator proteins form nuclear foci known as insulator bodies in response to osmotic stress. However, the mechanism through which insulator proteins assemble into bodies is yet to be investigated. Here, we identify signatures of LLPS by insulator bodies, including high disorder tendency in insulator proteins, scaffold-client-dependent assembly, extensive fusion behavior, sphericity, and sensitivity to 1,6-hexanediol. We also show that the cohesin subunit Rad21 is a component of insulator bodies, adding to the known insulator protein constituents and γH2Av. Our data suggest a concerted role of cohesin and insulator proteins in insulator body formation and under physiological conditions. We propose a mechanism whereby these architectural proteins modulate 3D genome organization through LLPS.
MeSH term(s)	Animals ; Cell Nucleus ; Cell Physiological Phenomena ; Chromatin Assembly and Disassembly ; Drosophila/genetics ; Drosophila Proteins/genetics
Chemical Substances	Drosophila Proteins
Language	English
Publishing date	2022-07-19
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	2575-1077
ISSN (online)	2575-1077
DOI	10.26508/lsa.202201536
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Article ; Online: The Fragile X Protein and Genome Function.

Dockendorff, Thomas C / Labrador, Mariano

Molecular neurobiology

2018 Volume 56, Issue 1, Page(s) 711–721

Abstract: The fragile X syndrome (FXS) arises from loss of expression or function of the FMR1 gene and is one of the most common monogenic forms of intellectual disability and autism. During the past two decades of FXS research, the fragile X mental retardation ... ...

Abstract	The fragile X syndrome (FXS) arises from loss of expression or function of the FMR1 gene and is one of the most common monogenic forms of intellectual disability and autism. During the past two decades of FXS research, the fragile X mental retardation protein (FMRP) has been primarily characterized as a cytoplasmic RNA binding protein that facilitates transport of select RNA substrates through neural projections and regulation of translation within synaptic compartments, with the protein products of such mRNAs then modulating cognitive functions. However, the presence of a small fraction of FMRP in the nucleus has long been recognized. Accordingly, recent studies have uncovered several mechanisms or pathways by which FMRP influences nuclear gene expression and genome function. Some of these pathways appear to be independent of the classical role for FMRP as a regulator of translation and point to novel functions, including the possibility that FMRP directly participates in the DNA damage response and in the maintenance of genome stability. In this review, we highlight these advances and discuss how these new findings could contribute to our understanding of FMRP in brain development and function, the neural pathology of fragile X syndrome, and perhaps impact of future therapeutic considerations.
MeSH term(s)	Animals ; Cell Nucleus/metabolism ; Epigenesis, Genetic ; Fragile X Mental Retardation Protein/chemistry ; Fragile X Mental Retardation Protein/metabolism ; Genome ; Genomic Instability ; Humans ; Models, Biological
Chemical Substances	Fragile X Mental Retardation Protein (139135-51-6)
Language	English
Publishing date	2018-05-23
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	645020-9
ISSN	1559-1182 ; 0893-7648
ISSN (online)	1559-1182
ISSN	0893-7648
DOI	10.1007/s12035-018-1122-9
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Article ; Online: Phosphorylated histone variant γH2Av is associated with chromatin insulators in Drosophila.

Simmons, James R / An, Ran / Amankwaa, Bright / Zayac, Shannon / Kemp, Justin / Labrador, Mariano

PLoS genetics

2022 Volume 18, Issue 10, Page(s) e1010396

Abstract: Chromatin insulators are responsible for orchestrating long-range interactions between enhancers and promoters throughout the genome and align with the boundaries of Topologically Associating Domains (TADs). Here, we demonstrate an association between ... ...

Abstract	Chromatin insulators are responsible for orchestrating long-range interactions between enhancers and promoters throughout the genome and align with the boundaries of Topologically Associating Domains (TADs). Here, we demonstrate an association between gypsy insulator proteins and the phosphorylated histone variant H2Av (γH2Av), normally a marker of DNA double strand breaks. Gypsy insulator components colocalize with γH2Av throughout the genome, in polytene chromosomes and in diploid cells in which Chromatin IP data shows it is enriched at TAD boundaries. Mutation of insulator components su(Hw) and Cp190 results in a significant reduction in γH2Av levels in chromatin and phosphatase inhibition strengthens the association between insulator components and γH2Av and rescues γH2Av localization in insulator mutants. We also show that γH2Av, but not H2Av, is a component of insulator bodies, which are protein condensates that form during osmotic stress. Phosphatase activity is required for insulator body dissolution after stress recovery. Together, our results implicate the H2A variant with a novel mechanism of insulator function and boundary formation.
MeSH term(s)	Animals ; Chromatin/genetics ; Chromatin/metabolism ; DNA/metabolism ; Drosophila/genetics ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Histones/genetics ; Histones/metabolism ; Insulator Elements/genetics ; Microtubule-Associated Proteins/genetics ; Nuclear Proteins/genetics ; Phosphoric Monoester Hydrolases/genetics ; Polytene Chromosomes/genetics
Chemical Substances	CP190 protein, Drosophila ; Chromatin ; Drosophila Proteins ; Histones ; Microtubule-Associated Proteins ; Nuclear Proteins ; DNA (9007-49-2) ; Phosphoric Monoester Hydrolases (EC 3.1.3.2)
Language	English
Publishing date	2022-10-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2186725-2
ISSN	1553-7404 ; 1553-7390
ISSN (online)	1553-7404
ISSN	1553-7390
DOI	10.1371/journal.pgen.1010396
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Article ; Online: A Drosophila insulator interacting protein suppresses enhancer-blocking function and modulates replication timing.

Stow, Emily C / Simmons, James R / An, Ran / Schoborg, Todd A / Davenport, Nastasya M / Labrador, Mariano

Gene

2022 Volume 819, Page(s) 146208

Abstract: Insulators play important roles in genome structure and function in eukaryotes. Interactions between a DNA binding insulator protein and its interacting partner proteins define the properties of each insulator site. The different roles of insulator ... ...

Abstract	Insulators play important roles in genome structure and function in eukaryotes. Interactions between a DNA binding insulator protein and its interacting partner proteins define the properties of each insulator site. The different roles of insulator protein partners in the Drosophila genome and how they confer functional specificity remain poorly understood. The Suppressor of Hairy wing [Su(Hw)] insulator is targeted to the nuclear lamina, preferentially localizes at euchromatin/heterochromatin boundaries, and is associated with the gypsy retrotransposon. Insulator activity relies on the ability of the Su(Hw) protein to bind the DNA at specific sites and interact with Mod(mdg4)67.2 and CP190 partner proteins. HP1 and insulator partner protein 1 (HIPP1) is a partner of Su(Hw), but how HIPP1 contributes to the function of Su(Hw) insulator complexes is unclear. Here, we demonstrate that HIPP1 colocalizes with the Su(Hw) insulator complex in polytene chromatin and in stress-induced insulator bodies. We find that the overexpression of either HIPP1 or Su(Hw) or mutation of the HIPP1 crotonase-like domain (CLD) causes defects in cell proliferation by limiting the progression of DNA replication. We also show that HIPP1 overexpression suppresses the Su(Hw) insulator enhancer-blocking function, while mutation of the HIPP1 CLD does not affect Su(Hw) enhancer blocking. These findings demonstrate a functional relationship between HIPP1 and the Su(Hw) insulator complex and suggest that the CLD, while not involved in enhancer blocking, influences cell cycle progression.
MeSH term(s)	Animals ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Cell Proliferation ; DNA Replication ; Drosophila/genetics ; Drosophila/metabolism ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Enhancer Elements, Genetic ; Heterochromatin/metabolism ; Insulator Elements ; Microtubule-Associated Proteins/metabolism ; Mutation ; Nuclear Proteins/metabolism ; Repressor Proteins/genetics ; Repressor Proteins/metabolism
Chemical Substances	CP190 protein, Drosophila ; Carrier Proteins ; Drosophila Proteins ; HIPP1 protein, Drosophila ; Heterochromatin ; Microtubule-Associated Proteins ; Nuclear Proteins ; Repressor Proteins ; su(Hw) protein, Drosophila
Language	English
Publishing date	2022-01-29
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2022.146208
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Article: A Drosophila insulator interacting protein suppresses enhancer-blocking function and modulates replication timing

Stow, Emily C. / Simmons, James R. / An, Ran / Schoborg, Todd A. / Davenport, Nastasya M. / Labrador, Mariano

Gene. 2022 Apr. 20, v. 819

2022

Abstract	Insulators play important roles in genome structure and function in eukaryotes. Interactions between a DNA binding insulator protein and its interacting partner proteins define the properties of each insulator site. The different roles of insulator protein partners in the Drosophila genome and how they confer functional specificity remain poorly understood. The Suppressor of Hairy wing [Su(Hw)] insulator is targeted to the nuclear lamina, preferentially localizes at euchromatin/heterochromatin boundaries, and is associated with the gypsy retrotransposon. Insulator activity relies on the ability of the Su(Hw) protein to bind the DNA at specific sites and interact with Mod(mdg4)67.2 and CP190 partner proteins. HP1 and insulator partner protein 1 (HIPP1) is a partner of Su(Hw), but how HIPP1 contributes to the function of Su(Hw) insulator complexes is unclear. Here, we demonstrate that HIPP1 colocalizes with the Su(Hw) insulator complex in polytene chromatin and in stress-induced insulator bodies. We find that the overexpression of either HIPP1 or Su(Hw) or mutation of the HIPP1 crotonase-like domain (CLD) causes defects in cell proliferation by limiting the progression of DNA replication. We also show that HIPP1 overexpression suppresses the Su(Hw) insulator enhancer-blocking function, while mutation of the HIPP1 CLD does not affect Su(Hw) enhancer blocking. These findings demonstrate a functional relationship between HIPP1 and the Su(Hw) insulator complex and suggest that the CLD, while not involved in enhancer blocking, influences cell cycle progression.
Keywords	DNA ; DNA replication ; Drosophila ; cell cycle ; cell proliferation ; eukaryotic cells ; genes ; heterochromatin ; mutation ; nuclear lamina ; retrotransposons
Language	English
Dates of publication	2022-0420
Publishing place	Elsevier B.V.
Document type	Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2022.146208
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Psychological capital, work satisfaction and health self-perception as predictors of psychological wellbeing in military personnel.

Hernández-Varas, Eduardo / Labrador Encinas, Francisco J / Méndez Suárez, Mariano

Psicothema

2019 Volume 31, Issue 3, Page(s) 277–283

Abstract: Background: Worker wellbeing is known to positively impact both the employer organization and the employee. However, the hardship inherent to military life may hinder the achievement of satisfactory levels of worker wellbeing. In this study we aim to ... ...

Abstract	Background: Worker wellbeing is known to positively impact both the employer organization and the employee. However, the hardship inherent to military life may hinder the achievement of satisfactory levels of worker wellbeing. In this study we aim to address whether psychological capital, work satisfaction and health self-perception are able to predict psychological wellbeing in a military population. Method: A descriptive, correlational study was performed using a cohort of 492 Spanish soldiers by applying multiple linear regression. The resulting regression array between the variables psychological capital, work satisfaction and health self-perception was used to predict psychological wellbeing. Results: A positive, significative correlation was detected between the variables psychological capital, work satisfaction and health self-perception and psychological wellbeing, altogether explaining up to 53% of the variance of the latter. The most important predictor was psychological capital, responsible for 80% of the predictive power. Conclusions: Due to the significant predictive power of psychological capital over individuals’ wellbeing, the development of programs aimed at enhancing psychological capital may have a positive outcome on military personnel’s psychological wellbeing.
MeSH term(s)	Adult ; Attitude ; Diagnostic Self Evaluation ; Female ; Humans ; Job Satisfaction ; Male ; Mental Health ; Middle Aged ; Military Health ; Military Personnel/psychology ; Spain ; Young Adult
Language	English
Publishing date	2019-07-22
Publishing country	Spain
Document type	Journal Article
ZDB-ID	2421645-8
ISSN	1886-144X ; 0214-9915
ISSN (online)	1886-144X
ISSN	0214-9915
DOI	10.7334/psicothema2019.22
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Article ; Online: Expanding the roles of chromatin insulators in nuclear architecture, chromatin organization and genome function.

Schoborg, Todd / Labrador, Mariano

Cellular and molecular life sciences : CMLS

2014 Volume 71, Issue 21, Page(s) 4089–4113

Abstract: Of the numerous classes of elements involved in modulating eukaryotic chromosome structure and function, chromatin insulators arguably remain the most poorly understood in their contribution to these processes in vivo. Indeed, our view of chromatin ... ...

Abstract	Of the numerous classes of elements involved in modulating eukaryotic chromosome structure and function, chromatin insulators arguably remain the most poorly understood in their contribution to these processes in vivo. Indeed, our view of chromatin insulators has evolved dramatically since their chromatin boundary and enhancer blocking properties were elucidated roughly a quarter of a century ago as a result of recent genome-wide, high-throughput methods better suited to probing the role of these elements in their native genomic contexts. The overall theme that has emerged from these studies is that chromatin insulators function as general facilitators of higher-order chromatin loop structures that exert both physical and functional constraints on the genome. In this review, we summarize the result of recent work that supports this idea as well as a number of other studies linking these elements to a diverse array of nuclear processes, suggesting that chromatin insulators exert master control over genome organization and behavior.
MeSH term(s)	Animals ; Cell Cycle ; Cell Nucleus/metabolism ; Chromatin/chemistry ; Chromatin/physiology ; DNA Repair ; DNA Replication ; Drosophila melanogaster/physiology ; Genome ; Humans ; Poly Adenosine Diphosphate Ribose/chemistry ; Sumoylation ; Transcription, Genetic
Chemical Substances	Chromatin ; Poly Adenosine Diphosphate Ribose (26656-46-2)
Language	English
Publishing date	2014-07-11
Publishing country	Switzerland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Review
ZDB-ID	1358415-7
ISSN	1420-9071 ; 1420-682X
ISSN (online)	1420-9071
ISSN	1420-682X
DOI	10.1007/s00018-014-1672-6
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Article ; Online: Mutations in the insulator protein Suppressor of Hairy wing induce genome instability.

Hsu, Shih-Jui / Stow, Emily C / Simmons, James R / Wallace, Heather A / Lopez, Andrea Mancheno / Stroud, Shannon / Labrador, Mariano

Chromosoma

2020 Volume 129, Issue 3-4, Page(s) 255–274

Abstract: Insulator proteins orchestrate the three-dimensional organization of the genome. Insulators function by facilitating communications between regulatory sequences and gene promoters, allowing accurate gene transcription regulation during embryo development ...

Abstract	Insulator proteins orchestrate the three-dimensional organization of the genome. Insulators function by facilitating communications between regulatory sequences and gene promoters, allowing accurate gene transcription regulation during embryo development and cell differentiation. However, the role of insulator proteins beyond genome organization and transcription regulation remains unclear. Suppressor of Hairy wing [Su(Hw)] is a Drosophila insulator protein that plays an important function in female oogenesis. Here we find that su(Hw) has an unsuspected role in genome stability during cell differentiation. We show that su(Hw) mutant developing egg chambers have poorly formed microtubule organization centers (MTOCs) in the germarium and display mislocalization of the anterior/posterior axis specification factor gurken in later oogenesis stages. Additionally, eggshells from partially rescued su(Hw) mutant female germline exhibit dorsoventral patterning defects. These phenotypes are very similar to phenotypes found in the important class of spindle mutants or in piRNA pathway mutants in Drosophila, in which defects generally result from the failure of germ cells to repair DNA damage. Similarities between mutations in su(Hw) and spindle and piRNA mutants are further supported by an excess of DNA damage in nurse cells, and because Gurken localization defects are partially rescued by mutations in the ATR (mei-41) and Chk1 (grapes) DNA damage response genes. Finally, we also show that su(Hw) mutants produce an elevated number of chromosome breaks in dividing neuroblasts from larval brains. Together, these findings suggest that Su(Hw) is necessary for the maintenance of genome integrity during Drosophila development, in both germline and dividing somatic cells.
MeSH term(s)	Animals ; Drosophila/genetics ; Drosophila Proteins/genetics ; Female ; Genomic Instability ; Genotype ; Insulator Elements ; Oogenesis/genetics ; Ovary/cytology ; Ovary/metabolism ; Phenotype
Chemical Substances	Drosophila Proteins
Language	English
Publishing date	2020-11-02
Publishing country	Austria
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	203083-4
ISSN	1432-0886 ; 0009-5915
ISSN (online)	1432-0886
ISSN	0009-5915
DOI	10.1007/s00412-020-00743-8
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Article ; Online: Author Correction: Pictograms to aid laypeople in identifying the addictiveness of gambling products (PictoGRRed study).

Luquiens, Amandine / Guillou, Morgane / Giustiniani, Julie / Barrault, Servane / Caillon, Julie / Delmas, Helena / Achab, Sophia / Bento, Bruno / Billieux, Joël / Brevers, Damien / Brody, Aymeric / Brunault, Paul / Challet-Bouju, Gaëlle / Chóliz, Mariano / Clark, Luke / Cornil, Aurélien / Costes, Jean-Michel / Devos, Gaetan / Díaz, Rosa /

Estevez, Ana / Grassi, Giacomo / Hakansson, Anders / Khazaal, Yasser / King, Daniel L / Labrador, Francisco / Lopez-Gonzalez, Hibai / Newall, Philip / Perales, José C / Ribadier, Aurélien / Sescousse, Guillaume / Sharman, Stephen / Taquet, Pierre / Varescon, Isabelle / Von Hammerstein, Cora / Bonjour, Thierry / Romo, Lucia / Grall-Bronnec, Marie

Scientific reports

2023 Volume 13, Issue 1, Page(s) 3460

Language	English
Publishing date	2023-03-01
Publishing country	England
Document type	Published Erratum
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-023-30530-1
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Article ; Online: Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).

Lázaro-Guevara, José M / Flores-Robles, Bryan-Josué / Garrido-Lopez, Karen M / McKeown, Ryan J / Flores-Morán, Adriana E / Labrador-Sánchez, Eztizen / Pinillos-Aransay, Valvanera / Trasahedo, Estibaliz A / López-Martín, Juan-Antonio / Soberanis, Laura Sofía Reyna / Melgar, Mariano Yee / Téllez-Arreola, José Luis / Thébault, Stéphanie C

Gene

2022 Volume 851, Page(s) 146956

Abstract: Motivation: Next-generation sequencing (NGS) technologies are decisive for discovering disease-causing variants, although their cost limits their utility in a clinical setting. A cost-mitigating alternative is an extremely low coverage whole-genome ... ...

Abstract	Motivation: Next-generation sequencing (NGS) technologies are decisive for discovering disease-causing variants, although their cost limits their utility in a clinical setting. A cost-mitigating alternative is an extremely low coverage whole-genome sequencing (XLC-WGS). We investigated its use to identify causal variants within a multi-generational pedigree of individuals with retinitis pigmentosa (RP). Causing progressive vision loss, RP is a group of genetically heterogeneous eye disorders with approximately 60 known causal genes. Results: We performed XLC-WGS in seventeen members of this pedigree, including three individuals with a confirmed diagnosis of RP. Sequencing data were processed using Illumina's DRAGEN pipeline and filtered using Illumina's genotype quality score metric (GQX). The resulting variants were analyzed using Expert Variant Interpreter (eVai) from enGenome as a prioritization tool. A nonsense known mutation (c.1625C > G; p.Ser542*) in exon 4 of the RP1 gene emerged as the most likely causal variant. We identified two homozygous carriers of this variant among the three sequenced RP cases and three heterozygous individuals with sufficient coverage of the RP1 locus. Our data show the utility of combining pedigree information with XLC-WGS as a cost-effective approach to identify disease-causing variants.
MeSH term(s)	Humans ; Codon, Nonsense ; DNA Mutational Analysis ; Eye Proteins/genetics ; Microtubule-Associated Proteins/genetics ; Mutation ; Pedigree ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/diagnosis ; Whole Genome Sequencing
Chemical Substances	Codon, Nonsense ; Eye Proteins ; Microtubule-Associated Proteins ; RP1 protein, human
Language	English
Publishing date	2022-10-27
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2022.146956
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