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Dbf4-Dependent Kinase (Ddk)-Mediated Proteolysis Of Cenp-A Prevents Mislocalization Of Cenp-A In Saccharomyces Cerevisiae, Jessica R. Eisenstatt, Lars Boeckmann, Wei-Chun Au, Valerie Garcia, Levi Bursch, Josefina Ocampo, Michael Costanzo, Michael Weinreich, Robert A. Sclafani, Anastasia Baryshnikova, Chad L. Myers, Charles Boone, David J. Clark, Richard E. Baker, Munira A. Basrai 2020 National Cancer Institute

Dbf4-Dependent Kinase (Ddk)-Mediated Proteolysis Of Cenp-A Prevents Mislocalization Of Cenp-A In Saccharomyces Cerevisiae, Jessica R. Eisenstatt, Lars Boeckmann, Wei-Chun Au, Valerie Garcia, Levi Bursch, Josefina Ocampo, Michael Costanzo, Michael Weinreich, Robert A. Sclafani, Anastasia Baryshnikova, Chad L. Myers, Charles Boone, David J. Clark, Richard E. Baker, Munira A. Basrai

Open Access Articles

The evolutionarily conserved centromeric histone H3 variant (Cse4 in budding yeast, CENP-A in humans) is essential for faithful chromosome segregation. Mislocalization of CENP-A to non-centromeric chromatin contributes to chromosomal instability (CIN) in yeast, fly, and human cells and CENP-A is highly expressed and mislocalized in cancers. Defining mechanisms that prevent mislocalization of CENP-A is an area of active investigation. Ubiquitin-mediated proteolysis of overexpressed Cse4 (GALCSE4) by E3 ubiquitin ligases such as Psh1 prevents mislocalization of Cse4, and psh1Delta strains display synthetic dosage lethality (SDL) with GALCSE4. We previously performed a genome-wide screen and identified five alleles of CDC7 and DBF4 ...


Trim34 Restricts Hiv-1 And Siv Capsids In A Trim5alpha-Dependent Manner, Molly Ohainle, Kyusik Kim, Sevnur Komurlu Keceli, Abby Felton, Ed Campbell, Jeremy Luban, Michael Emerman 2020 Fred Hutchinson Cancer Research Center

Trim34 Restricts Hiv-1 And Siv Capsids In A Trim5alpha-Dependent Manner, Molly Ohainle, Kyusik Kim, Sevnur Komurlu Keceli, Abby Felton, Ed Campbell, Jeremy Luban, Michael Emerman

Open Access Articles

The HIV-1 capsid protein makes up the core of the virion and plays a critical role in early steps of HIV replication. Due to its exposure in the cytoplasm after entry, HIV capsid is a target for host cell factors that act directly to block infection such as TRIM5alpha and MxB. Several host proteins also play a role in facilitating infection, including in the protection of HIV-1 capsid from recognition by host cell restriction factors. Through an unbiased screening approach, called HIV-CRISPR, we show that the CPSF6-binding deficient, N74D HIV-1 capsid mutant is sensitive to restriction mediated by human TRIM34 ...


Identification And Characterization Of The Lactating Mouse Mammary Gland Citrullinome, Guangyuan Li, Coleman H. Young, Bryce Snow, Amanda O. Christensen, M. Kristen Demoruelle, Venkatesh V. Nemmara, Paul R. Thompson, Heather M. Rothfuss, Brian D. Cherrington 2020 University of Wyoming

Identification And Characterization Of The Lactating Mouse Mammary Gland Citrullinome, Guangyuan Li, Coleman H. Young, Bryce Snow, Amanda O. Christensen, M. Kristen Demoruelle, Venkatesh V. Nemmara, Paul R. Thompson, Heather M. Rothfuss, Brian D. Cherrington

Open Access Articles

Citrullination is a post-translational modification (PTM) in which positively charged peptidyl-arginine is converted into neutral peptidyl-citrulline by peptidylarginine deiminase (PAD or PADI) enzymes. The full protein citrullinome in many tissues is unknown. Herein, we used mass spectrometry and identified 107 citrullinated proteins in the lactation day 9 (L9) mouse mammary gland including histone H2A, alpha-tubulin, and beta-casein. Given the importance of prolactin to lactation, we next tested if it stimulates PAD-catalyzed citrullination using mouse mammary epithelial CID-9 cells. Stimulation of CID-9 cells with 5 microg/mL prolactin for 10 min induced a 2-fold increase in histone H2A citrullination and a ...


Histone Deacetylases 1 And 2 Silence Cryptic Transcription To Promote Mitochondrial Function During Cardiogenesis, Zachary J. Milstone, Sherin Saheera, Lauren Bourke, Tomer Shpilka, Cole M. Haynes, Chinmay M. Trivedi 2020 University of Massachusetts Medical School

Histone Deacetylases 1 And 2 Silence Cryptic Transcription To Promote Mitochondrial Function During Cardiogenesis, Zachary J. Milstone, Sherin Saheera, Lauren Bourke, Tomer Shpilka, Cole M. Haynes, Chinmay M. Trivedi

Open Access Articles

Cryptic transcription occurs widely across the eukaryotic genome; however, its regulation during vertebrate development is not understood. Here, we show that two class I histone deacetylases, Hdac1 and Hdac2, silence cryptic transcription to promote mitochondrial function in developing murine hearts. Mice lacking Hdac1 and Hdac2 in heart exhibit defective developmental switch from anaerobic to mitochondrial oxidative phosphorylation (OXPHOS), severe defects in mitochondrial mass, mitochondrial function, and complete embryonic lethality. Hdac1/Hdac2 promotes the transition to OXPHOS by enforcing transcriptional fidelity of metabolic gene programs. Mechanistically, Hdac1/Hdac2 deacetylates histone residues including H3K23, H3K14, and H4K16 to suppress cryptic transcriptional initiation ...


Cryoem Structure Of Ctbp2 Confirms Tetrameric Architecture [Preprint], Anne M. Jecrois, M. Michael Dcona, Xiaovan Deng, Dipankar Bandyopadhyay, Steven R. Grossman, Celia A. Schiffer, William E. Royer 2020 University of Massachusetts Medical School

Cryoem Structure Of Ctbp2 Confirms Tetrameric Architecture [Preprint], Anne M. Jecrois, M. Michael Dcona, Xiaovan Deng, Dipankar Bandyopadhyay, Steven R. Grossman, Celia A. Schiffer, William E. Royer

University of Massachusetts Medical School Faculty Publications

C-terminal binding proteins 1 and 2 (CtBP1 and CtBP2) are transcriptional regulators that activate or repress many genes involved in cellular development, apoptosis and metastasis. CtBP proteins are activated under hypoxic conditions where NAD(H) levels tend to be higher. NADH-dependent activation of CtBP2 has direct implication in multiple types of cancers and poor patient prognosis. Previous studies have proposed dimeric CtBP as the relevant oligomeric state, however our studies with multi-angle light scattering have shown that the primary effect of NADH binding is to promote the assembly of two CtBP dimers into tetramers. Here, we present the cryoEM structures ...


Biomarker Exploration In Human Peripheral Blood Mononuclear Cells For Monitoring Sulforaphane Treatment Responses In Autism Spectrum Disorder, Hua Liu, Andrew W. Zimmerman, Kanwaljit Singh, Susan Connors, Eileen Diggins, Katherine K. Stephenson, Albena T. Dinkova-Kostova, Jed W. Fahey 2020 Johns Hopkins University

Biomarker Exploration In Human Peripheral Blood Mononuclear Cells For Monitoring Sulforaphane Treatment Responses In Autism Spectrum Disorder, Hua Liu, Andrew W. Zimmerman, Kanwaljit Singh, Susan Connors, Eileen Diggins, Katherine K. Stephenson, Albena T. Dinkova-Kostova, Jed W. Fahey

Open Access Articles

Autism Spectrum Disorder (ASD) is one of the most common neurodevelopmental disorders with no drugs treating the core symptoms and no validated biomarkers for clinical use. The multi-functional phytochemical sulforaphane affects many of the biochemical abnormalities associated with ASD. We investigated potential molecular markers from three ASD-associated physiological pathways that can be affected by sulforaphane: redox metabolism/oxidative stress; heat shock response; and immune dysregulation/inflammation, in peripheral blood mononuclear cells (PBMCs) from healthy donors and patients with ASD. We first analyzed the mRNA levels of selected molecular markers in response to sulforaphane ex vivo treatment in PBMCs from healthy ...


Cd44 Receptor Mediates Urate Crystal Phagocytosis By Macrophages And Regulates Inflammation In A Murine Peritoneal Model Of Acute Gout, Emira Bousoik, Marwa Qadri, Khaled A. Elsaid 2020 Chapman University

Cd44 Receptor Mediates Urate Crystal Phagocytosis By Macrophages And Regulates Inflammation In A Murine Peritoneal Model Of Acute Gout, Emira Bousoik, Marwa Qadri, Khaled A. Elsaid

Pharmacy Faculty Articles and Research

Gout is a chronic arthritis caused by the deposition of poorly soluble monosodium urate monohydrate (MSU) crystals in peripheral joints. Resident macrophages initiate inflammation in response to MSU mediated by NF-κB nuclear translocation and NLRP3 inflammasome activation. We investigated the role of CD44, a transmembrane receptor, in mediating MSU phagocytosis by macrophages. We used an antibody that sheds the extracellular domain (ECD) of CD44 to study the role of the receptor and its associated protein phosphatase 2A (PP2A) in macrophage activation. We also studied the significance of CD44 in mediating MSU inflammation in-vivo. Cd44−/− BMDMs showed reduced MSU phagocytosis, LDH ...


Mob Family Proteins: Regulatory Partners In Hippo And Hippo-Like Intracellular Signaling Pathways, Juan Carlos Duhart, Laurel A. Raftery 2020 Thomas Jefferson University

Mob Family Proteins: Regulatory Partners In Hippo And Hippo-Like Intracellular Signaling Pathways, Juan Carlos Duhart, Laurel A. Raftery

Life Sciences Faculty Publications

Studies in yeast first delineated the function of Mob proteins in kinase pathways that regulate cell division and shape; in multicellular eukaryotes Mobs regulate tissue growth and morphogenesis. In animals, Mobs are adaptors in Hippo signaling, an intracellular signal-transduction pathway that restricts growth, impacting the development and homeostasis of animal organs. Central to Hippo signaling are the Nuclear Dbf2-Related (NDR) kinases, Warts and LATS1 and LATS2, in flies and mammals, respectively. A second Hippo-like signaling pathway has been uncovered in animals, which regulates cell and tissue morphogenesis. Central to this emergent pathway are the NDR kinases, Tricornered, STK38, and STK38L ...


Comparisons Of Antibody Populations In Different Pre-Fusion F Vlp-Immunized Cotton Rat Dams And Their Offspring, Lori McGinnes Cullen, Marina S. Boukhvalova, Jorge C. G. Blanco, Trudy G. Morrison 2020 University of Massachusetts Medical School

Comparisons Of Antibody Populations In Different Pre-Fusion F Vlp-Immunized Cotton Rat Dams And Their Offspring, Lori Mcginnes Cullen, Marina S. Boukhvalova, Jorge C. G. Blanco, Trudy G. Morrison

Open Access Articles

Respiratory syncytial virus (RSV) infection poses a significant risk for infants. Since the direct vaccination of infants is problematic, maternal vaccination may provide a safer, more effective approach to their protection. In the cotton rat (CR) model, we have compared the immunization of pregnant CR dams with virus-like particles assembled with the prototype mutation stabilized pre-fusion F protein, DS-Cav1, as well two alternative mutation stabilized pre-fusion proteins (UC-2 F, UC-3 F) and showed that the alternative pre-fusion F VLPs protected the offspring of immunized dams significantly better than DS-Cav1 F VLPs (Blanco, et al. J. Virol. 93: e00914). Here, we ...


A Systematic Re-Examination Of Processing Of Mhci-Bound Antigenic Peptide Precursors By Er Aminopeptidase 1, George Mavridis, Richa Arya, Alexander Domnick, Jerome Zoidakis, Manousos Makridakis, Antonia Vlahou, Anastasia Mpakali, Angelos Lelis, Dimitris Georgiadis, Robert Tampe, Athanasios Papakyriakou, Lawrence J. Stern, Efstratios Stratikos 2020 National Center for Scientific Research Demokritos

A Systematic Re-Examination Of Processing Of Mhci-Bound Antigenic Peptide Precursors By Er Aminopeptidase 1, George Mavridis, Richa Arya, Alexander Domnick, Jerome Zoidakis, Manousos Makridakis, Antonia Vlahou, Anastasia Mpakali, Angelos Lelis, Dimitris Georgiadis, Robert Tampe, Athanasios Papakyriakou, Lawrence J. Stern, Efstratios Stratikos

Open Access Articles

Endoplasmic reticulum aminopeptidase 1 (ERAP1) trims antigenic peptide precursors to generate mature antigenic peptides for presentation by major histocompatibility complex class I (MHCI) molecules and regulates adaptive immune responses. ERAP1 has been proposed to trim peptide precursors both in solution and in pre-formed MHCI-peptide complexes, but which mode is more relevant to its biological function remains controversial. Here, we compared ERAP1-mediated trimming of antigenic peptide precursors in solution or when bound to three MHCI alleles, HLA-B*58, HLA-B*08 and HLA-A*02. For all MHCI-peptide combinations, peptide binding onto MHCI protected against ERAP1-mediated trimming. In only a single MHCI-peptide combination ...


Beta-Amyloid Clustering Around Asc Fibrils Boosts Its Toxicity In Microglia, Lea L. Friker, Hannah Scheiblich, Inga V. Hochheiser, Rebecca Brinkschulte, Dietmar Riedel, Eicke Latz, Matthias Geyer, Michael T. Heneka 2020 University of Bonn Medical Center

Beta-Amyloid Clustering Around Asc Fibrils Boosts Its Toxicity In Microglia, Lea L. Friker, Hannah Scheiblich, Inga V. Hochheiser, Rebecca Brinkschulte, Dietmar Riedel, Eicke Latz, Matthias Geyer, Michael T. Heneka

Open Access Articles

Alzheimer's disease is the world's most common neurodegenerative disorder. It is associated with neuroinflammation involving activation of microglia by beta-amyloid (Abeta) deposits. Based on previous studies showing apoptosis-associated speck-like protein containing a CARD (ASC) binding and cross-seeding extracellular Abeta, we investigate the propagation of ASC between primary microglia and the effects of ASC-Abeta composites on microglial inflammasomes and function. Indeed, ASC released by a pyroptotic cell can be functionally built into the neighboring microglia NOD-like receptor protein (NLRP3) inflammasome. Compared with protein-only application, exposure to ASC-Abeta composites amplifies the proinflammatory response, resulting in pyroptotic cell death, setting free ...


Liver-Directed But Not Muscle-Directed Aav-Antibody Gene Transfer Limits Humoral Immune Responses In Rhesus Monkeys, Sebastian P. Fuchs, Jose M. Martinez-Navio, Eva G. Rakasz, Guangping Gao, Ronald C. Desrosiers 2020 University of Miami

Liver-Directed But Not Muscle-Directed Aav-Antibody Gene Transfer Limits Humoral Immune Responses In Rhesus Monkeys, Sebastian P. Fuchs, Jose M. Martinez-Navio, Eva G. Rakasz, Guangping Gao, Ronald C. Desrosiers

Open Access Articles

A number of publications have described the use of adeno-associated virus (AAV) for the delivery of anti-HIV and anti-simian immunodeficiency virus (SIV) monoclonal antibodies (mAbs) to rhesus monkeys. Anti-drug antibodies (ADAs) have been frequently observed, and long-term AAV-mediated delivery has been inconsistent. Here, we investigated different AAV vector strategies and delivery schemes to rhesus monkeys using the rhesus monkey mAb 4L6. We compared 4L6 immunoglobulin G1 (IgG1) delivery using the AAV1 versus the AAV8 serotype with a cytomegalovirus (CMV) promoter and the use of a muscle-specific versus a liver-specific promoter. Long-term expression levels of 4L6 IgG1 following AAV8-mediated gene transfer ...


Exogenous Gdf11, But Not Gdf8, Reduces Body Weight And Improves Glucose Homeostasis In Mice, Ryan G. Walker, Hye Lim Noh, Taekyoon Kim, Jason K. Kim, Richard T. Lee 2020 Harvard University

Exogenous Gdf11, But Not Gdf8, Reduces Body Weight And Improves Glucose Homeostasis In Mice, Ryan G. Walker, Hye Lim Noh, Taekyoon Kim, Jason K. Kim, Richard T. Lee

Open Access Articles

Insulin resistance is associated with aging in mice and humans. We have previously shown that administration of recombinant GDF11 (rGDF11) to aged mice alters aging phenotypes in the brain, skeletal muscle, and heart. While the closely related protein GDF8 has a role in metabolism, limited data are available on the potential metabolic effects of GDF11 or GDF8 in aging. To determine the metabolic effects of these two ligands, we administered rGDF11 or rGDF8 protein to young or aged mice fed a standard chow diet, short-term high-fat diet (HFD), or long-term HFD. Under nearly all of these diet conditions, administration of ...


Detecting Chromatin Interactions Along And Between Sister Chromatids With Sisterc [Preprint], Marlies E. Oomen, Adam K. Hedger, Jonathan K. Watts, Job Dekker 2020 University of Massachusetts Medical School

Detecting Chromatin Interactions Along And Between Sister Chromatids With Sisterc [Preprint], Marlies E. Oomen, Adam K. Hedger, Jonathan K. Watts, Job Dekker

University of Massachusetts Medical School Faculty Publications

Accurate chromosome segregation requires chromosome compaction with concordant disentanglement of the two sister chromatids. This process has been studied extensively by microscopy but has remained a challenge for genomic methods, such as Hi-C, because sister chromatids have identical DNA sequences. Here we describe SisterC, a chromosome conformation capture assay that can distinguish interactions between and within sister chromatids. The assay is based on BrdU incorporation during S-phase, which labels the newly replicated strands of the sister chromatids. This is followed by Hi-C, e.g. during different stages of mitosis, and the selective destruction of BrdU containing strands by UV/Hoechst ...


Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, And Metabolism, Informing The Pathogenesis Of Hypertrophic Cardiomyopathy, Christopher N. Toepfer, Raul Padron, Christine E. Seidman 2020 Harvard Medical School

Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, And Metabolism, Informing The Pathogenesis Of Hypertrophic Cardiomyopathy, Christopher N. Toepfer, Raul Padron, Christine E. Seidman

Open Access Articles

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is caused by pathogenic variants in sarcomere protein genes that evoke hypercontractility, poor relaxation, and increased energy consumption by the heart and increased patient risks for arrhythmias and heart failure. Recent studies show that pathogenic missense variants in myosin, the molecular motor of the sarcomere, are clustered in residues that participate in dynamic conformational states of sarcomere proteins. We hypothesized that these conformations are essential to adapt contractile output for energy conservation and that pathophysiology of HCM results from destabilization of these conformations.

METHODS: We assayed myosin ATP binding to define the proportion of myosins in ...


Characterization Of Dimerization Domains On The Mannose-6-Phosphate/Insulin-Like Growth Factor 2 Receptor, Tyler Degener 2020 University of Nebraska at Omaha

Characterization Of Dimerization Domains On The Mannose-6-Phosphate/Insulin-Like Growth Factor 2 Receptor, Tyler Degener

Student Research and Creative Activity Fair

The mannose-6-phosphate/insulin-like growth factor 2 (M6P/IGF2) receptor is a transmembrane protein with the ability to sequester growth factors from the extracellular matrix. This behavior links the receptor to tumor suppression. On a structural level, the extracellular portion of the protein is segmented into 15 homologous repeats, which can be divided further into 5 triplet domains, labelled 1-3, 4-6, 7-9, 10-12, and 13-15. Each triplet receptor displays its own unique ligand binding affinity, including the ability to form dimers with triplets on a second M6P/IGF2 receptor. In fact, previous studies indicate that this protein functions optimally when dimerized ...


Diabetes Mellitus Type 2 Is Associated With Increased Tumor Expression Of Programmed Death-Ligand 1 (Pd-L1) In Surgically Resected Non-Small Cell Lung Cancer - A Matched Case-Control Study, Christopher A. Febres-Aldana, Robert Poppiti, John M. Varlotto, Rick Voland, Michael Zaleski, Setareh Sharzehi, Negar Rassaei 2020 Mount Sinai Medical Center

Diabetes Mellitus Type 2 Is Associated With Increased Tumor Expression Of Programmed Death-Ligand 1 (Pd-L1) In Surgically Resected Non-Small Cell Lung Cancer - A Matched Case-Control Study, Christopher A. Febres-Aldana, Robert Poppiti, John M. Varlotto, Rick Voland, Michael Zaleski, Setareh Sharzehi, Negar Rassaei

Open Access Articles

OBJECTIVES: Programmed death-ligand 1 (PD-L1) expression is a biomarker for cancer immunotherapy. Diabetes mellitus type-2 is a comorbid disease associated with adverse outcomes in Non-Small Cell Lung Cancer (NSCLC). We aimed to investigate the differences in PD-L1 expression in diabetics.

METHODS: A matched case-control cohort of surgically-resected NSCLC was assembled from an early multicenter study (PMID: 19152440). PD-L1 immunohistochemistry (Clone 22C3) was graded by a tumor positive score (TPS) system (TPS0: no staining; TPS1: < 1%; TPS2: 1-49%; TPS3: > /=50%). Variables showing significance at univariate survival analysis were fit in a Cox regression survival model.

RESULTS: Diabetics (n=40) and nondiabetics (n=39) showed no ...


Comprehensive Fitness Maps Of Hsp90 Show Widespread Environmental Dependence, Julia M. Flynn, Ammeret Rossouw, Pamela A. Cote-Hammarlof, Ines Fragata, David Mavor, Carl Hollins III, Claudia Bank, Daniel N. Bolon 2020 University of Massachusetts Medical School

Comprehensive Fitness Maps Of Hsp90 Show Widespread Environmental Dependence, Julia M. Flynn, Ammeret Rossouw, Pamela A. Cote-Hammarlof, Ines Fragata, David Mavor, Carl Hollins Iii, Claudia Bank, Daniel N. Bolon

Open Access Articles

Gene-environment interactions have long been theorized to influence molecular evolution. However, the environmental dependence of most mutations remains unknown. Using deep mutational scanning, we engineered yeast with all 44,604 single codon changes encoding 14,160 amino acid variants in Hsp90 and quantified growth effects under standard conditions and under five stress conditions. To our knowledge, these are the largest determined comprehensive fitness maps of point mutants. The growth of many variants differed between conditions, indicating that environment can have a large impact on Hsp90 evolution. Multiple variants provided growth advantages under individual conditions; however, these variants tended to exhibit ...


Dopamine Transporter Trafficking And Rit2 Gtpase: Mechanism Of Action And In Vivo Impact, Rita R. Fagan, Patrick Kearney, Carolyn G. Sweeney, Dino Luethi, Florianne E. Schoot Uiterkamp, Klaus Schicker, Brian S. Alejandro, Lauren C. O'Connor, Harald H. Sitte, Haley Melikian 2020 University of Massachusetts Medical School

Dopamine Transporter Trafficking And Rit2 Gtpase: Mechanism Of Action And In Vivo Impact, Rita R. Fagan, Patrick Kearney, Carolyn G. Sweeney, Dino Luethi, Florianne E. Schoot Uiterkamp, Klaus Schicker, Brian S. Alejandro, Lauren C. O'Connor, Harald H. Sitte, Haley Melikian

Open Access Articles

Following its evoked release, DA signaling is rapidly terminated by presynaptic reuptake, mediated by the cocaine-sensitive DAT. DAT surface availability is dynamically regulated by endocytic trafficking, and direct PKC activation acutely diminishes DAT surface expression by accelerating DAT internalization. Previous cell line studies demonstrated that PKC-stimulated DAT endocytosis requires both Ack1 inactivation, which releases a DAT-specific endocytic brake, and the neuronal GTPase, Rit2, which binds DAT. However, it is unknown whether Rit2 is required for PKC-stimulated DAT endocytosis in DAergic terminals, or whether there are region- and/or sex-dependent differences in PKC-stimulated DAT trafficking. Moreover, the mechanisms by which Rit2 ...


Does Dna Methylation Matter In Fshd, Valentina Salsi, Frederique Magdinier, Rossella Ginevra Tupler 2020 University of Modena and Reggio Emilia

Does Dna Methylation Matter In Fshd, Valentina Salsi, Frederique Magdinier, Rossella Ginevra Tupler

Open Access Articles

Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4 repeats is considered part of the FSHD mechanism and has been proposed as a reliable marker in the FSHD diagnostic procedure. We considered the assessment of D4Z4 DNA methylation status conducted on distinct cohorts using different methodologies. On the basis of the reported results we conclude that the percentage of DNA methylation detected at D4Z4 does not correlate with the disease status. Overall, data suggest that in the case of FSHD1, D4Z4 ...


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