Search

Your search keyword '"Karali Marianthi"' showing total 174 results
Start Over Author "Karali Marianthi"
174 results on '"Karali Marianthi"'

1. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Author

Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, and Cremers, Frans

Subjects
inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins
Abstract

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.

Published
2024

4. miRNeye: a microRNA expression atlas of the mouse eye

Author

Verde Roberta, Bilio Marchesa, Gennarino Vincenzo A, Peluso Ivana, Karali Marianthi, Lago Giampiero, Dollé Pascal, and Banfi Sandro

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background MicroRNAs (miRNAs) are key regulators of biological processes. To define miRNA function in the eye, it is essential to determine a high-resolution profile of their spatial and temporal distribution. Results In this report, we present the first comprehensive survey of miRNA expression in ocular tissues, using both microarray and RNA in situ hybridization (ISH) procedures. We initially determined the expression profiles of miRNAs in the retina, lens, cornea and retinal pigment epithelium of the adult mouse eye by microarray. Each tissue exhibited notably distinct miRNA enrichment patterns and cluster analysis identified groups of miRNAs that showed predominant expression in specific ocular tissues or combinations of them. Next, we performed RNA ISH for over 220 miRNAs, including those showing the highest expression levels by microarray, and generated a high-resolution expression atlas of miRNAs in the developing and adult wild-type mouse eye, which is accessible in the form of a publicly available web database. We found that 122 miRNAs displayed restricted expression domains in the eye at different developmental stages, with the majority of them expressed in one or more cell layers of the neural retina. Conclusions This analysis revealed miRNAs with differential expression in ocular tissues and provided a detailed atlas of their tissue-specific distribution during development of the murine eye. The combination of the two approaches offers a valuable resource to decipher the contributions of specific miRNAs and miRNA clusters to the development of distinct ocular structures.

Published
2010
Full Text
View/download PDF

6. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

Author

Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P. M., Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, and Banfi, Sandro

Published
2022
Full Text
View/download PDF

8. Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy.

Author

Corradi, Zelia, Dhaenens, Claire-Marie, Grunewald, Olivier, Kocabaş, Ipek Selen, Meunier, Isabelle, Banfi, Sandro, Karali, Marianthi, Cremers, Frans P. M., and Hitti-Malin, Rebekkah J.

Subjects
DNA copy number variations, MOLECULAR probes, IDENTIFICATION, RETINAL diseases, GENETIC disorders, GENETIC disorder diagnosis, RECURRENT neural networks
Abstract

ABCA4 is the most frequently mutated gene leading to inherited retinal disease (IRD) with over 2200 pathogenic variants reported to date. Of these, ~1% are copy number variants (CNVs) involving the deletion or duplication of genomic regions, typically >50 nucleotides in length. An in-depth assessment of the current literature based on the public database LOVD, regarding the presence of known CNVs and structural variants in ABCA4, and additional sequencing analysis of ABCA4 using single-molecule Molecular Inversion Probes (smMIPs) for 148 probands highlighted recurrent and novel CNVs associated with ABCA4-associated retinopathies. An analysis of the coverage depth in the sequencing data led to the identification of eleven deletions (six novel and five recurrent), three duplications (one novel and two recurrent) and one complex CNV. Of particular interest was the identification of a complex defect, i.e., a 15.3 kb duplicated segment encompassing exon 31 through intron 41 that was inserted at the junction of a downstream 2.7 kb deletion encompassing intron 44 through intron 47. In addition, we identified a 7.0 kb tandem duplication of intron 1 in three cases. The identification of CNVs in ABCA4 can provide patients and their families with a genetic diagnosis whilst expanding our understanding of the complexity of diseases caused by ABCA4 variants. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

9. Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.

Author

De Falco, Alessandro, Karali, Marianthi, Criscuolo, Chiara, Testa, Francesco, Barillari, Maria Rosaria, Scarpato, Margherita, Gaudieri, Valeria, Cuocolo, Alberto, Russo, Anna, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro, and Brunetti‐Pierri, Nicola

Abstract

Mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome type A) is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the SGSH gene encoding N‐sulfoglucosamine sulfohydrolase, an enzyme involved in the degradation of heparan sulfate. MPS IIIA is typically characterized by neurocognitive decline and hepatosplenomegaly with childhood onset. Here, we report on a 53‐year‐old male subject initially diagnosed with Usher syndrome for the concurrence of retinitis pigmentosa and sensorineural hearing loss. Clinical exome sequencing identified biallelic missense variants in SGSH, and biochemical assays showed complete deficiency of sulfamidase activity and increased urinary glycosaminoglycan excretion. Reverse phenotyping revealed left ventricle pseudo‐hypertrophy, hepatosplenomegaly, bilateral deep white matter hyperintensities upon brain MRI, and decreased cortical metabolic activity by PET‐CT. On neuropsychological testing, the proband presented only partial and isolated verbal memory deficits. This case illustrates the power of unbiased, comprehensive genetic testing for the diagnosis of challenging mild or atypical forms of MPS IIIA. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

11. Late‐onset mucopolysaccharidosis type IIIA mimicking Usher syndrome

Author

De Falco, Alessandro, primary, Karali, Marianthi, additional, Criscuolo, Chiara, additional, Testa, Francesco, additional, Barillari, Maria Rosaria, additional, Scarpato, Margherita, additional, Gaudieri, Valeria, additional, Cuocolo, Alberto, additional, Russo, Anna, additional, Nigro, Vincenzo, additional, Simonelli, Francesca, additional, Banfi, Sandro, additional, and Brunetti‐Pierri, Nicola, additional

Published
2023
Full Text
View/download PDF

12. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, and Cremers, Frans P. M.

Published
2020
Full Text
View/download PDF

15. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Author

Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, and De Baere, Elfride

Published
2019
Full Text
View/download PDF

16. microRNAs as biomarkers in Pompe disease

Author

Tarallo, Antonietta, Carissimo, Annamaria, Gatto, Francesca, Nusco, Edoardo, Toscano, Antonio, Musumeci, Olimpia, Coletta, Marcella, Karali, Marianthi, Acampora, Emma, Damiano, Carla, Minopoli, Nadia, Fecarotta, Simona, Della Casa, Roberto, Mongini, Tiziana, Vercelli, Liliana, Santoro, Lucio, Ruggiero, Lucia, Deodato, Federica, Taurisano, Roberta, Bembi, Bruno, Dardis, Andrea, Banfi, Sandro, Pijnappel, WW Pim, van der Ploeg, Ans T, and Parenti, Giancarlo

Published
2019
Full Text
View/download PDF

17. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Author

Panneman, Daan M., primary, Hitti-Malin, Rebekkah J., additional, Holtes, Lara K., additional, de Bruijn, Suzanne E., additional, Reurink, Janine, additional, Boonen, Erica G. M., additional, Khan, Muhammad Imran, additional, Ali, Manir, additional, Andréasson, Sten, additional, De Baere, Elfride, additional, Banfi, Sandro, additional, Bauwens, Miriam, additional, Ben-Yosef, Tamar, additional, Bocquet, Béatrice, additional, De Bruyne, Marieke, additional, Cerda, Berta de la, additional, Coppieters, Frauke, additional, Farinelli, Pietro, additional, Guignard, Thomas, additional, Inglehearn, Chris F., additional, Karali, Marianthi, additional, Kjellström, Ulrika, additional, Koenekoop, Robert, additional, de Koning, Bart, additional, Leroy, Bart P., additional, McKibbin, Martin, additional, Meunier, Isabelle, additional, Nikopoulos, Konstantinos, additional, Nishiguchi, Koji M., additional, Poulter, James A., additional, Rivolta, Carlo, additional, Rodríguez de la Rúa, Enrique, additional, Saunders, Patrick, additional, Simonelli, Francesca, additional, Tatour, Yasmin, additional, Testa, Francesco, additional, Thiadens, Alberta A. H. J., additional, Toomes, Carmel, additional, Tracewska, Anna M., additional, Tran, Hoai Viet, additional, Ushida, Hiroaki, additional, Vaclavik, Veronika, additional, Verhoeven, Virginie J. M., additional, van de Vorst, Maartje, additional, Gilissen, Christian, additional, Hoischen, Alexander, additional, Cremers, Frans P. M., additional, and Roosing, Susanne, additional

Published
2023
Full Text
View/download PDF

18. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Author

Novartis, Foundation Fighting Blindness, Ghent University, Research Foundation - Flanders, European Commission, Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., Bruijn, Suzanne E. de, Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, Koning, Bart de, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., Vorst, Maartje van de, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., Roosing, Susanne, Novartis, Foundation Fighting Blindness, Ghent University, Research Foundation - Flanders, European Commission, Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., Bruijn, Suzanne E. de, Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, Koning, Bart de, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., Vorst, Maartje van de, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., and Roosing, Susanne

Abstract

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.

Published
2023

19. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Author

Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G.M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A.H.J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J.M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P.M., Roosing, Susanne, Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G.M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, Cerda, Berta de la, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A.H.J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J.M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P.M., and Roosing, Susanne

Abstract

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with these conditions. While whole exome sequencing (WES) is commonly used by diagnostic facilities, the costs and required infrastructure prevent its global applicability. Previous studies have shown the cost-effectiveness of sequence analysis using single molecule Molecular Inversion Probes (smMIPs) in a cohort of patients diagnosed with Stargardt disease and other maculopathies. Methods: Here, we introduce a smMIPs panel that targets the exons and splice sites of all currently known genes associated with RP and LCA, the entire RPE65 gene, known causative deep-intronic variants leading to pseudo-exons, and part of the RP17 region associated with autosomal dominant RP, by using a total of 16,812 smMIPs. The RP-LCA smMIPs panel was used to screen 1,192 probands from an international cohort of predominantly RP and LCA cases. Results and discussion: After genetic analysis, a diagnostic yield of 56% was obtained which is on par with results from WES analysis. The effectiveness and the reduced costs compared to WES renders the RP-LCA smMIPs panel a competitive approach to provide IRD patients with a genetic diagnosis, especially in countries with restricted access to genetic testing.

Published
2023

20. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Author

Panneman, Daan M., primary, Hitti-Malin, Rebekkah J., additional, Holtes, Lara K., additional, de Bruijn, Suzanne E., additional, Reurink, Janine, additional, Boonen, Erica G.M., additional, Khan, Muhammad Imran, additional, Ali, Manir, additional, Andréasson, Sten, additional, De Baere, Elfride, additional, Banfi, Sandro, additional, Bauwens, Miriam, additional, Ben-Yosef, Tamar, additional, Bocquet, Béatrice, additional, De Bruyne, Marieke, additional, de la Cerda, Berta, additional, Coppieters, Frauke, additional, Farinelli, Pietro, additional, Guignard, Thomas, additional, Inglehearn, Chris F., additional, Karali, Marianthi, additional, Kjellström, Ulrika, additional, Koenekoop, Robert, additional, de Koning, Bart, additional, Leroy, Bart P., additional, McKibbin, Martin, additional, Meunier, Isabelle, additional, Nikopoulos, Konstantinos, additional, Nishiguchi, Koji M., additional, Poulter, James A., additional, Rivolta, Carlo, additional, Rodríguez de la Rúa, Enrique, additional, Saunders, Patrick, additional, Simonelli, Francesca, additional, Tatour, Yasmin, additional, Testa, Francesco, additional, Thiadens, Alberta A.H.J., additional, Toomes, Carmel, additional, Tracewska, Anna M., additional, Viet Tran, Hoai, additional, Ushida, Hiroaki, additional, Vaclavik, Veronika, additional, Verhoeven, Virginie J.M., additional, van de Vorst, Maartje, additional, Gilissen, Christian, additional, Hoischen, Alexander, additional, Cremers, Frans P.M., additional, and Roosing, Susanne, additional

Published
2022
Full Text
View/download PDF

22. Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Author

Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, and De Baere, Elfride

Published
2019
Full Text
View/download PDF

23. RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study

Author

Testa, Francesco, primary, Murro, Vittoria, additional, Signorini, Sabrina, additional, Colombo, Leonardo, additional, Iarossi, Giancarlo, additional, Parmeggiani, Francesco, additional, Falsini, Benedetto, additional, Salvetti, Anna Paola, additional, Brunetti-Pierri, Raffaella, additional, Aprile, Giorgia, additional, Bertone, Chiara, additional, Suppiej, Agnese, additional, Romano, Francesco, additional, Karali, Marianthi, additional, Donati, Simone, additional, Melillo, Paolo, additional, Sodi, Andrea, additional, Quaranta, Luciano, additional, Rossetti, Luca, additional, Buzzonetti, Luca, additional, Chizzolini, Marzio, additional, Rizzo, Stanislao, additional, Staurenghi, Giovanni, additional, Banfi, Sandro, additional, Azzolini, Claudio, additional, and Simonelli, Francesca, additional

Published
2022
Full Text
View/download PDF

26. Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients

Author

Testa, Francesco, primary, Melillo, Paolo, additional, Della Corte, Michele, additional, Di Iorio, Valentina, additional, Brunetti-Pierri, Raffaella, additional, Citro, Amelia, additional, Ferrara, Maurizio, additional, Karali, Marianthi, additional, Annibale, Rosa, additional, Banfi, Sandro, additional, Rossi, Settimio, additional, and Simonelli, Francesca, additional

Published
2021
Full Text
View/download PDF

28. MiR-211 is essential for adult cone photoreceptor maintenance and visual function

Author

Barbato, Sara, Marrocco, Elena, Intartaglia, Daniela, Pizzo, Mariateresa, Asteriti, Sabrina, Naso, Federica, Falanga, Danila, Bhat, Rajeshwari S., Meola, Nicola, Carissimo, Annamaria, Karali, Marianthi, Prosser, Haydn M., Cangiano, Lorenzo, Surace, Enrico Maria, Banfi, Sandro, Conte, Ivan, CONTE, IVAN, Intartaglia, Daniela [0000-0001-5256-3188], Asteriti, Sabrina [0000-0003-2846-9305], Cangiano, Lorenzo [0000-0001-7145-1288], Banfi, Sandro [0000-0002-6541-8833], Apollo - University of Cambridge Repository, Barbato, Sara, Marrocco, Elena, Intartaglia, Daniela, Pizzo, Mariateresa, Asteriti, Sabrina, Naso, Federica, Falanga, Danila, Bhat, Rajeshwari S, Meola, Nicola, Carissimo, Annamaria, Karali, Marianthi, Prosser, Haydn M, Cangiano, Lorenzo, Surace, Enrico Maria, Banfi, Sandro, Conte, Ivan, Bhat, Rajeshwari S., and Prosser, Haydn M.

Subjects
0301 basic medicine, Male, retina, genetic structures, degeneration, lcsh:Medicine, Biology, Retinal Cone Photoreceptor Cells, Article, Transcriptome, 03 medical and health sciences, Mice, rods, cones, Cone dystrophy, microRNA, retina, rods, cones, miRNAs, mouse, degeneration, disease, medicine, Animals, Cone Dystrophy, Eye Proteins, lcsh:Science, mouse, Vision, Ocular, Regulation of gene expression, Mice, Knockout, disease, Retina, Multidisciplinary, Gene Expression Profiling, lcsh:R, medicine.disease, Cell biology, Gene expression profiling, MicroRNAs, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, miRNAs, Female, lcsh:Q, sense organs, Function (biology)
Abstract

MicroRNAs (miRNAs) are key post-transcriptional regulators of gene expression that play an important role in the control of fundamental biological processes in both physiological and pathological conditions. Their function in retinal cells is just beginning to be elucidated, and a few have been found to play a role in photoreceptor maintenance and function. MiR-211 is one of the most abundant miRNAs in the developing and adult eye. However, its role in controlling vertebrate visual system development, maintenance and function so far remain incompletely unexplored. Here, by targeted inactivation in a mouse model, we identify a critical role of miR-211 in cone photoreceptor function and survival. MiR-211 knockout (−/−) mice exhibited a progressive cone dystrophy accompanied by significant alterations in visual function. Transcriptome analysis of the retina from miR-211−/− mice during cone degeneration revealed significant alteration of pathways related to cell metabolism. Collectively, this study highlights for the first time the impact of miR-211 function in the retina and significantly contributes to unravelling the role of specific miRNAs in cone photoreceptor function and survival.

Published
2017

29. Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Author

Brunetti-Pierri, Raffaella, primary, Karali, Marianthi, additional, Testa, Francesco, additional, Cappuccio, Gerarda, additional, Onore, Maria Elena, additional, Romano, Francesca, additional, De Rosa, Giuseppe, additional, Tedeschi, Enrico, additional, Brunetti-Pierri, Nicola, additional, Banfi, Sandro, additional, and Simonelli, Francesca, additional

Published
2021
Full Text
View/download PDF

31. Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study

Author

Testa, Francesco, primary, Sodi, Andrea, additional, Signorini, Sabrina, additional, Di Iorio, Valentina, additional, Murro, Vittoria, additional, Brunetti-Pierri, Raffaella, additional, Valente, Enza Maria, additional, Karali, Marianthi, additional, Melillo, Paolo, additional, Banfi, Sandro, additional, and Simonelli, Francesca, additional

Published
2021
Full Text
View/download PDF

32. Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (Genetics in Medicine, (2018), 10.1038/s41436-018-0345-5)

Author

Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, De Baere, Elfride, Van de Sompele, Stijn, Smith, Claire, Karali, Marianthi, Corton, Marta, Van Schil, Kristof, Peelman, Frank, Cherry, Timothy, Rosseel, Toon, Verdin, Hannah, Derolez, Julien, Van Laethem, Thalia, Khan, Kamron N., Mckibbin, Martin, Toomes, Carmel, Ali, Manir, Torella, Annalaura, Testa, Francesco, Jimenez, Belen, Simonelli, Francesca, De Zaeytijd, Julie, Van den Ende, Jenneke, Leroy, Bart P., Coppieters, Frauke, Ayuso, Carmen, Inglehearn, Chris F., Banfi, Sandro, and De Baere, Elfride

Abstract

The original version of this Article contained an incorrect version of Fig.3, which included two variants initially shown in black text in Fig. 3a that the authors removed from the final manuscript. The correct version of Fig. 3 without the two variants now appears in the PDF and HTML versions of the Article.

Published
2019

34. Additional file 3 of miRNeye: a microRNA expression atlas of the mouse eye

Author

Karali, Marianthi, Peluso, Ivana, Gennarino, Vincenzo A, Marchesa Bilio, Verde, Roberta, Lago, Giampiero, Dollé, Pascal, and Banfi, Sandro

Subjects
fungi, natural sciences
Abstract

Additional file 3:Gene Ontology analysis of the predicted targets of selected sub-clusters of miRNAs with comparable expression profiles. Schematic representation of selected GO/KEGG categories relevant to eye development and function that were enriched among the targets of at least 70% of the miRNAs present within each sub-cluster. The miRNAs within each sub-cluster considered for functional analysis of their predicted targets are listed on the last column of the table. The tissues in which each cluster was predominantly expressed are listed in the column labeled "Expression". For each GO/KEGG category the percentage of representation of this term among the miRNAs analyzed is reported within the cell. The terms of BP Biological Processes and KEGG pathways that relate to similar cellular functions are arbitrarily coloured for readers' clarity. The exact reference numbers that correspond to the GO Biological Processes and KEGG pathways of the table are the following: cell adhesion (GO:0007155); axonogenesis (GO:0007409); morphogenesis of a branching structure (GO:0001763); modification-dependent macromolecule catabolic process (GO:0043632); epithelium development (GO:0060429); transmission of nerve impulse (GO:0019226); cell migration (GO:0016477); cell motion (GO:0006928); neuron development (GO:0048666); neuron differentiation (GO:0030182); neuron projection development (GO:0031175); pattern specification process (GO:0007389); cell-cell signaling (GO:0007267); synaptic transmission (GO:0007268); vesicle-mediated transport (GO:0016192); vasculature development (GO:0001944); Wnt signaling pathway (GO:0016055); regulation of actin cytoskeleton (KEGG: mmu04810); Adherens junction (KEGG: mmu04520); Axon guidance (KEGG: mmu04360); Focal adhesion (KEGG: mmu04510); Glioma (KEGG: mmu05214); GnRH signaling pathway (KEGG: mmu04912); Melanogenesis (KEGG: mmu04916); Melanoma (KEGG: mmu05218); Neurotrophin signaling pathway (KEGG: mmu04722); Wnt signaling pathway (KEGG: mmu04310); MAPK signaling pathway (KEGG: mmu04010); TGF-beta signaling pathway (KEGG: mmu04350). Abbreviations are, cor: cornea; ret: retina; RPE: retinal pigment epithelium. (PDF 37 KB)

Published
2020
Full Text
View/download PDF

35. The C. elegans HP1 homologue HPL-2 and the LIN-13 zinc finger protein form a complex implicated in vulval development

Author

Coustham, Vincent, Bedet, CeCile, Monier, Karine, Schott, Sonia, Karali, Marianthi, and Palladino, Francesca

Subjects
DNA binding proteins, Chromatin, Protein binding, Caenorhabditis elegans, Biological sciences
Abstract

To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/j.ydbio.2006.04.474 Byline: Vincent Coustham, Cecile Bedet, Karine Monier, Sonia Schott, Marianthi Karali, Francesca Palladino Keywords: C. elegans; HP1; Chromatin; LIN-13; Vulva Abstract: HP1 proteins are essential components of heterochromatin and contribute to the transcriptional repression of euchromatic genes via the recruitment to specific promoters by corepressor proteins including TIF1 and Rb. The Caenorhabditis elegans HP1 homologue HPL-2 acts in the 'synMuv' (synthetic multivulval) pathway, which defines redundant negative regulators of a Ras signaling cascade required for vulval induction. Several synMuv genes encode for chromatin-associated proteins involved in transcriptional regulation, including Rb and components of the Mi-2/NuRD and TIP60/NuA4 chromatin remodeling complexes. Here, we show that HPL-2 physically interacts in vitro and in vivo with the multiple zinc finger protein LIN-13, another member of the synMuv pathway. A variant of the conserved PXVXL motif found in many HP1-interacting proteins mediates LIN-13 binding to the CSD of HPL-2. We further show by in vivo localization studies that LIN-13 is required for HPL-2 recruitment in nuclear foci. Our data suggest that the LIN-13/HPL-2 complex may physically link a subset of the Rb related synMuv proteins to chromatin. Author Affiliation: Laboratoire de Biologie Moleculaire de la Cellule, Ecole Normale Superieure de Lyon, 46 allee d'Italie, 69007 Lyon, France Article History: Received 21 December 2005; Revised 10 April 2006; Accepted 11 April 2006

Published
2006

37. Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Author

Di Iorio, Valentina, primary, Karali, Marianthi, additional, Melillo, Paolo, additional, Testa, Francesco, additional, Brunetti-Pierri, Raffaella, additional, Musacchia, Francesco, additional, Condroyer, Christel, additional, Neidhardt, John, additional, Audo, Isabelle, additional, Zeitz, Christina, additional, Banfi, Sandro, additional, and Simonelli, Francesca, additional

Published
2020
Full Text
View/download PDF

38. Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female

Author

Barillari, Maria Rosaria, primary, Karali, Marianthi, additional, Di Iorio, Valentina, additional, Contaldo, Maria, additional, Piccolo, Vincenzo, additional, Esposito, Maria, additional, Costa, Giuseppe, additional, Argenziano, Giuseppe, additional, Serpico, Rosario, additional, Carotenuto, Marco, additional, Cappuccio, Gerarda, additional, Banfi, Sandro, additional, Melillo, Paolo, additional, and Simonelli, Francesca, additional

Published
2020
Full Text
View/download PDF

39. Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa

Author

Karali, Marianthi, primary, Testa, Francesco, additional, Brunetti-Pierri, Raffaella, additional, Di Iorio, Valentina, additional, Pizzo, Mariateresa, additional, Melillo, Paolo, additional, Barillari, Maria Rosaria, additional, Torella, Annalaura, additional, Musacchia, Francesco, additional, D’Angelo, Luigi, additional, Banfi, Sandro, additional, and Simonelli, Francesca, additional

Published
2019
Full Text
View/download PDF

41. Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, primary, Cornelis, Stéphanie S., additional, del Pozo-Valero, Marta, additional, Whelan, Laura, additional, Runhart, Esmee H., additional, Mishra, Ketan, additional, Bults, Femke, additional, AlSwaiti, Yahya, additional, AlTabishi, Alaa, additional, De Baere, Elfride, additional, Banfi, Sandro, additional, Banin, Eyal, additional, Bauwens, Miriam, additional, Ben-Yosef, Tamar, additional, Boon, Camiel J.F., additional, van den Born, L. Ingeborgh, additional, Defoort, Sabine, additional, Devos, Aurore, additional, Dockery, Adrian, additional, Dudakova, Lubica, additional, Fakin, Ana, additional, Farrar, G. Jane, additional, Ferraz Sallum, Juliana Maria, additional, Fujinami, Kaoru, additional, Gilissen, Christian, additional, Glavač, Damjan, additional, Gorin, Michael B., additional, Greenberg, Jacquie, additional, Hayashi, Takaaki, additional, Hettinga, Ymkje, additional, Hoischen, Alexander, additional, Hoyng, Carel B., additional, Hufendiek, Karsten, additional, Jägle, Herbert, additional, Kamakari, Smaragda, additional, Karali, Marianthi, additional, Kellner, Ulrich, additional, Klaver, Caroline C.W., additional, Kousal, Bohdan, additional, Lamey, Tina, additional, MacDonald, Ian M., additional, Matynia, Anna, additional, McLaren, Terri, additional, Mena, Marcela D., additional, Meunier, Isabelle, additional, Miller, Rianne, additional, Newman, Hadas, additional, Ntozini, Buhle, additional, Oldak, Monika, additional, Pieterse, Marc, additional, Podhajcer, Osvaldo L., additional, Puech, Bernard, additional, Ramesar, Raj, additional, Rüther, Klaus, additional, Salameh, Manar, additional, Salles, Mariana Vallim, additional, Sharon, Dror, additional, Simonelli, Francesca, additional, Spital, Georg, additional, Steehouwer, Marloes, additional, Szaflik, Jacek P., additional, Thompson, Jennifer A., additional, Thuillier, Caroline, additional, Tracewska, Anna M., additional, van Zweeden, Martine, additional, Vincent, Andrea L., additional, Zanlonghi, Xavier, additional, Liskova, Petra, additional, Stöhr, Heidi, additional, De Roach, John, additional, Ayuso, Carmen, additional, Roberts, Lisa, additional, Weber, Bernard H.F., additional, Dhaenens, Claire-Marie, additional, and Cremers, Frans P.M., additional

Published
2019
Full Text
View/download PDF

42. An atlas of gene expression and gene co-regulation in the human retina

Author

Pinelli, Michele, Carissimo, Annamaria, Cutillo, Luisa, Lai, Ching Hung, Mutarelli, Margherita, Moretti, Maria Nicoletta, Singh, Marwah Veer, Karali, Marianthi, Carrella, Diego, Pizzo, Mariateresa, Russo, Francesco, Ferrari, Stefano, Ponzin, Diego, Angelini, Claudia, Banfi, Sandro, Di Bernardo, Diego, Pinelli, Michele, Carissimo, Annamaria, Cutillo, Luisa, Lai, Ching Hung, Mutarelli, Margherita, Moretti, Maria Nicoletta, Singh, Marwah Veer, Karali, Marianthi, Carrella, Diego, Pizzo, Mariateresa, Russo, Francesco, Ferrari, Stefano, Ponzin, Diego, Angelini, Claudia, Banfi, Sandro, DI BERNARDO, Diego, and Di Bernardo, Diego

Subjects
0301 basic medicine, Gene isoform, Adult, Male, retina, gene co-regulation, Network, rna-seq, retina, Network, Biology, Genome, Transcriptome, Mitochondrial Proteins, 03 medical and health sciences, Exon, Atlases as Topic, Gene expression, Genetics, Humans, Protein Isoforms, Gene Regulatory Networks, Eye Proteins, Gene, Aged, Genome, Human, Gene Expression Profiling, Alternative splicing, Web tools, pipeline, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Molecular Sequence Annotation, Genomics, Exons, Middle Aged, Gene expression profiling, Alternative Splicing, 030104 developmental biology, Gene Ontology, Gene Network, rna-seq, Female
Abstract

The human retina is a specialized tissue involved in light stimulus transduction. Despite its unique biology, an accurate reference transcriptome is still missing. Here, we performed gene expression analysis (RNA-seq) of 50 retinal samples from non-visually impaired post-mortem donors. We identified novel transcripts with high confidence (Observed Transcriptome (ObsT)) and quantified the expression level of known transcripts (Reference Transcriptome (RefT)). The ObsT included 77 623 transcripts (23 960 genes) covering 137 Mb (35 Mb new transcribed genome). Most of the transcripts (92%) were multi-exonic: 81% with known isoforms, 16% with new isoforms and 3% belonging to new genes. The RefT included 13 792 genes across 94 521 known transcripts. Mitochondrial genes were among the most highly expressed, accounting for about 10% of the reads. Of all the protein-coding genes in Gencode, 65% are expressed in the retina. We exploited inter-individual variability in gene expression to infer a gene co-expression network and to identify genes specifically expressed in photoreceptor cells. We experimentally validated the photoreceptors localization of three genes in human retina that had not been previously reported. RNA-seq data and the gene co-expression network are available online (http://retina.tigem.it).

Published
2016

44. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

Author

Di Iorio, Valentina, primary, Karali, Marianthi, additional, Brunetti-Pierri, Raffaella, additional, Filippelli, Mariaelena, additional, Di Fruscio, Giuseppina, additional, Pizzo, Mariateresa, additional, Mutarelli, Margherita, additional, Nigro, Vincenzo, additional, Testa, Francesco, additional, Banfi, Sandro, additional, and Simonelli, Francesca, additional

Published
2017
Full Text
View/download PDF

45. High-resolution analysis of the human retina miRNome reveals isomiR variations and novel microRNAs

Author

Karali, Marianthi, primary, Persico, Maria, additional, Mutarelli, Margherita, additional, Carissimo, Annamaria, additional, Pizzo, Mariateresa, additional, Singh Marwah, Veer, additional, Ambrosio, Concetta, additional, Pinelli, Michele, additional, Carrella, Diego, additional, Ferrari, Stefano, additional, Ponzin, Diego, additional, Nigro, Vincenzo, additional, di Bernardo, Diego, additional, and Banfi, Sandro, additional

Published
2016
Full Text
View/download PDF

46. Microdeletion of pseudogene chr14.232.a affects LRFN5expression in cells of a patient with autism spectrum disorder

Author

Cappuccio, Gerarda, Attanasio, Sergio, Alagia, Marianna, Mutarelli, Margherita, Borzone, Roberta, Karali, Marianthi, Genesio, Rita, Mormile, Angela, Nitsch, Lucio, Imperati, Floriana, Esposito, Annalisa, Banfi, Sandro, Giudice, Ennio, and Brunetti-Pierri, Nicola

Abstract

We identified a 14q21.2 microdeletion in a 16-year-old boy with autism spectrum disorder (ASD), IQ in the lower part of normal range but high-functioning memory skills. The deletion affects a gene desert, and the non-deleted gene closest to the microdeletion boundaries is LRFN5, which encodes a protein involved in synaptic plasticity and implicated in neuro-psychiatric disorders. LRFN5expression was significantly decreased in the proband’s skin fibroblasts. The deleted region includes the pseudogene chr14.232.a, which is transcribed into a long non-coding RNA (lncLRFN5-10), whose levels were also significantly reduced in the proband’s fibroblasts compared to controls. Transfection of the patient’s fibroblasts with a plasmid expressing chr14.232.a significantly increased LRFN5expression, while siRNA targeting chr14.232.a-derived lncLRFN5-10 reduced LRFN5levels. In summary, we report on an individual with ASD carrying a microdeletion encompassing the pseudogene chr14.232.a encoding for lncLRFN5-10, which was found to affect the expression levels of the nearby, non-deleted LRFN5. This case illustrates the potential role of long non-coding RNAs in regulating expression of neighbouring genes with a functional role in ASD pathogenesis.

Published
2019
Full Text
View/download PDF

47. Novel Roles of Caenorhabditis elegans Heterochromatin Protein HP1 and Linker Histone in the Regulation of Innate Immune Gene Expression

Author

Beurton, Flore, Stempor, Przemyslaw, Caron, Matthieu, Appert, Alex, Dong, Yan, Chen, Ron A-j, Cluet, David, Couté, Yohann, Herbette, Marion, Huang, Ni, Polvèche, Hélène, Spichty, Martin, Ahringer, Julie, Kozlowski, L., Robert, Valérie J., Mercier, Marine G., Janczarski, Stéphane, Merlet, Jorge, Garvis, Steve, Ciosk, Rafal, Meister, Peter, Xiao, Yu, Rohner, Sabine, Bodennec, Selena, Hudry, Bruno, Molin, Laurent, Solari, Florence, Gasser, Susan, Simonet, Thomas, Coustham, Vincent, Monier, Karine, Schott, Sonia, Karali, Marianthi, Studencka, M., Konzer, A., Moneron, G., Wenzel, D., Opitz, L., Salinas-Riester, G., Bedet, Cécile, Kruger, M., Hell, S., Wisniewski, J., Schmidt, H., Palladino, Francesca, Schulze, E., Jedrusik-Bode, M., Laboratoire de biologie et modélisation de la cellule (LBMC UMR 5239), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Gurdon Institute and Department of Genetics, University of Cambridge, Cambridge, UK, The Gurdon Institute, Department of Psychology, Renmin University of China, Etude de la dynamique des protéomes (EDyP), Laboratoire de Biologie à Grande Échelle (BGE - UMR S1038), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Department of Neurology, Johns Hopkins University (JHU), Reproduction et développement des plantes (RDP), École normale supérieure - Lyon (ENS Lyon)-Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Friedrich Miescher Institute for Biomedical Research (FMI), Novartis Research Foundation, Institute of Clinical Sciences, MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Recherches Avicoles (SRA), Institut National de la Recherche Agronomique (INRA), Laboratoire Joliot Curie, École normale supérieure - Lyon (ENS Lyon)-Centre National de la Recherche Scientifique (CNRS), Telethon Institute for Genetics and Medicine, Telethon Institute, Max-Planck-Institut für Biophysikalische Chemie - Max Planck Institute for Biophysical Chemistry [Göttingen], Max-Planck-Gesellschaft, ESPCI ParisTech, FB Physik, Metallurgie und Werkstoffwissenschaften, Avt. Thermochemie une Mikrokinetik (TECH. UNIV. CLAUSTHAL), Clausthal University of Technology (TU Clausthal), Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)

Subjects
Transcriptional Activation, Chromosomal Proteins, Non-Histone, Bacillus thuringiensis, Biology, Chromodomain, Histones, 03 medical and health sciences, Histone methylation, Histone H2A, Histone code, Animals, Protein Interaction Domains and Motifs, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Promoter Regions, Genetic, Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Histone binding, Genetics, 0303 health sciences, 030302 biochemistry & molecular biology, EZH2, Cell Biology, Articles, Immunity, Innate, 3. Good health, Gene Expression Regulation, Histone methyltransferase, Host-Pathogen Interactions, Heterochromatin protein 1, Protein Binding
Abstract

Linker histone (H1) and heterochromatin protein 1 (HP1) are essential components of heterochromatin which contribute to the transcriptional repression of genes. It has been shown that the methylation mark of vertebrate histone H1 is specifically recognized by the chromodomain of HP1. However, the exact biological role of linker histone binding to HP1 has not been determined. Here, we investigate the function of the Caenorhabditis elegans H1 variant HIS-24 and the HP1-like proteins HPL-1 and HPL-2 in the cooperative transcriptional regulation of immune-relevant genes. We provide the first evidence that HPL-1 interacts with HIS-24 monomethylated at lysine 14 (HIS-24K14me1) and associates in vivo with promoters of genes involved in antimicrobial response. We also report an increase in overall cellular levels and alterations in the distribution of HIS-24K14me1 after infection with pathogenic bacteria. HIS-24K14me1 localization changes from being mostly nuclear to both nuclear and cytoplasmic in the intestinal cells of infected animals. Our results highlight an antimicrobial role of HIS-24K14me1 and suggest a functional link between epigenetic regulation by an HP1/H1 complex and the innate immune system in C. elegans.

Published
2011

Catalog

Books, media, physical & digital resources
See catalog results