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  1. AU="Schmit, Megan"
  2. AU="Donato, Federica"
  3. AU="Bommineni, Yugendar R"
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  1. Article ; Online: Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

    Schmit, Megan / Bielinsky, Anja-Katrin

    International journal of molecular sciences

    2021  Volume 22, Issue 2

    Abstract: Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic ... ...

    Abstract Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation, elongation and termination. Each time a human cell divides, these steps must be reiteratively carried out. Disruption of DNA replication can lead to genomic instability, with the accumulation of point mutations or larger chromosomal anomalies such as rearrangements. While cancer is the most common class of disease associated with genomic instability, several congenital diseases with dysfunctional DNA replication give rise to similar DNA alterations. In this review, we discuss all congenital diseases that arise from pathogenic variants in essential replication genes across the spectrum of aberrant replisome assembly, origin activation and DNA synthesis. For each of these conditions, we describe their clinical phenotypes as well as molecular studies aimed at determining the functional mechanisms of disease, including the assessment of genomic stability. By comparing and contrasting these diseases, we hope to illuminate how the disruption of DNA replication at distinct steps affects human health in a surprisingly cell-type-specific manner.
    MeSH term(s) Craniosynostoses/genetics ; Craniosynostoses/immunology ; DNA Replication/genetics ; DNA Replication/immunology ; Genomic Instability/genetics ; Genomic Instability/immunology ; Humans ; Mutation/genetics ; Neoplasms/epidemiology ; Neoplasms/genetics ; Phenotype ; RecQ Helicases/genetics ; RecQ Helicases/immunology
    Chemical Substances RecQ Helicases (EC 3.6.4.12)
    Language English
    Publishing date 2021-01-18
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms22020911
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells.

    Schmit, Megan M / Baxley, Ryan M / Wang, Liangjun / Hinderlie, Peter / Kaufman, Marissa / Simon, Emily / Raju, Anjali / Miller, Jeffrey S / Bielinsky, Anja-Katrin

    Open biology

    2024  Volume 14, Issue 1, Page(s) 230407

    Abstract: Natural killer (NK) cell deficiency (NKD) is a rare disease in which NK cell function is reduced, leaving affected individuals susceptible to repeated viral infections and cancer. Recently, a patient with NKD was identified carrying compound heterozygous ...

    Abstract Natural killer (NK) cell deficiency (NKD) is a rare disease in which NK cell function is reduced, leaving affected individuals susceptible to repeated viral infections and cancer. Recently, a patient with NKD was identified carrying compound heterozygous variants of
    MeSH term(s) Humans ; Induced Pluripotent Stem Cells ; Cell Differentiation ; Genes, Essential ; Genomic Instability ; Killer Cells, Natural ; Minichromosome Maintenance Proteins
    Chemical Substances MCM10 protein, human ; Minichromosome Maintenance Proteins (EC 3.6.4.12)
    Language English
    Publishing date 2024-01-24
    Publishing country England
    Document type Journal Article
    ZDB-ID 2630944-0
    ISSN 2046-2441 ; 2046-2441
    ISSN (online) 2046-2441
    ISSN 2046-2441
    DOI 10.1098/rsob.230407
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Coordination of Rad1-Rad10 interactions with Msh2-Msh3, Saw1 and RPA is essential for functional 3' non-homologous tail removal.

    Eichmiller, Robin / Medina-Rivera, Melisa / DeSanto, Rachel / Minca, Eugen / Kim, Christopher / Holland, Cory / Seol, Ja-Hwan / Schmit, Megan / Oramus, Diane / Smith, Jessica / Gallardo, Ignacio F / Finkelstein, Ilya J / Lee, Sang Eun / Surtees, Jennifer A

    Nucleic acids research

    2018  Volume 46, Issue 10, Page(s) 5075–5096

    Abstract: Double strand DNA break repair (DSBR) comprises multiple pathways. A subset of DSBR pathways, including single strand annealing, involve intermediates with 3' non-homologous tails that must be removed to complete repair. In Saccharomyces cerevisiae, Rad1- ...

    Abstract Double strand DNA break repair (DSBR) comprises multiple pathways. A subset of DSBR pathways, including single strand annealing, involve intermediates with 3' non-homologous tails that must be removed to complete repair. In Saccharomyces cerevisiae, Rad1-Rad10 is the structure-specific endonuclease that cleaves the tails in 3' non-homologous tail removal (3' NHTR). Rad1-Rad10 is also an essential component of the nucleotide excision repair (NER) pathway. In both cases, Rad1-Rad10 requires protein partners for recruitment to the relevant DNA intermediate. Msh2-Msh3 and Saw1 recruit Rad1-Rad10 in 3' NHTR; Rad14 recruits Rad1-Rad10 in NER. We created two rad1 separation-of-function alleles, rad1R203A,K205A and rad1R218A; both are defective in 3' NHTR but functional in NER. In vitro, rad1R203A,K205A was impaired at multiple steps in 3' NHTR. The rad1R218A in vivo phenotype resembles that of msh2- or msh3-deleted cells; recruitment of rad1R218A-Rad10 to recombination intermediates is defective. Interactions among rad1R218A-Rad10 and Msh2-Msh3 and Saw1 are altered and rad1R218A-Rad10 interactions with RPA are compromised. We propose a model in which Rad1-Rad10 is recruited and positioned at the recombination intermediate through interactions, between Saw1 and DNA, Rad1-Rad10 and Msh2-Msh3, Saw1 and Msh2-Msh3 and Rad1-Rad10 and RPA. When any of these interactions is altered, 3' NHTR is impaired.
    MeSH term(s) DNA Breaks, Double-Stranded ; DNA End-Joining Repair ; DNA Repair Enzymes/genetics ; DNA Repair Enzymes/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Endonucleases/genetics ; Endonucleases/metabolism ; MutS Homolog 2 Protein/metabolism ; MutS Homolog 3 Protein/genetics ; MutS Homolog 3 Protein/metabolism ; Mutation ; Protein Interaction Mapping ; Replication Protein A/genetics ; Replication Protein A/metabolism ; Saccharomyces cerevisiae/genetics ; Saccharomyces cerevisiae/radiation effects ; Saccharomyces cerevisiae Proteins/genetics ; Saccharomyces cerevisiae Proteins/metabolism ; Single-Strand Specific DNA and RNA Endonucleases/genetics ; Single-Strand Specific DNA and RNA Endonucleases/metabolism ; Ultraviolet Rays
    Chemical Substances DNA-Binding Proteins ; MSH3 protein, S cerevisiae ; MutS Homolog 3 Protein ; RFA1 protein, S cerevisiae ; Replication Protein A ; Saccharomyces cerevisiae Proteins ; Saw1 protein, S cerevisiae ; Endonucleases (EC 3.1.-) ; RAD1 protein, S cerevisiae (EC 3.1.-) ; RAD10 protein, S cerevisiae (EC 3.1.30.1) ; Single-Strand Specific DNA and RNA Endonucleases (EC 3.1.30.1) ; MSH2 protein, S cerevisiae (EC 3.6.1.3) ; MutS Homolog 2 Protein (EC 3.6.1.3) ; DNA Repair Enzymes (EC 6.5.1.-)
    Language English
    Publishing date 2018-02-19
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 186809-3
    ISSN 1362-4962 ; 1362-4954 ; 0301-5610 ; 0305-1048
    ISSN (online) 1362-4962 ; 1362-4954
    ISSN 0301-5610 ; 0305-1048
    DOI 10.1093/nar/gky254
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1067: Show issues Location:
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  4. Article ; Online: Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

    Baxley, Ryan M / Leung, Wendy / Schmit, Megan M / Matson, Jacob Peter / Yin, Lulu / Oram, Marissa K / Wang, Liangjun / Taylor, John / Hedberg, Jack / Rogers, Colette B / Harvey, Adam J / Basu, Debashree / Taylor, Jenny C / Pagnamenta, Alistair T / Dreau, Helene / Craft, Jude / Ormondroyd, Elizabeth / Watkins, Hugh / Hendrickson, Eric A /
    Mace, Emily M / Orange, Jordan S / Aihara, Hideki / Stewart, Grant S / Blair, Edward / Cook, Jeanette Gowen / Bielinsky, Anja-Katrin

    Nature communications

    2021  Volume 12, Issue 1, Page(s) 1626

    Abstract: Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 variants in patients with distinctive, but overlapping, clinical phenotypes: natural killer (NK) cell deficiency (NKD) ...

    Abstract Minichromosome maintenance protein 10 (MCM10) is essential for eukaryotic DNA replication. Here, we describe compound heterozygous MCM10 variants in patients with distinctive, but overlapping, clinical phenotypes: natural killer (NK) cell deficiency (NKD) and restrictive cardiomyopathy (RCM) with hypoplasia of the spleen and thymus. To understand the mechanism of MCM10-associated disease, we modeled these variants in human cell lines. MCM10 deficiency causes chronic replication stress that reduces cell viability due to increased genomic instability and telomere erosion. Our data suggest that loss of MCM10 function constrains telomerase activity by accumulating abnormal replication fork structures enriched with single-stranded DNA. Terminally-arrested replication forks in MCM10-deficient cells require endonucleolytic processing by MUS81, as MCM10:MUS81 double mutants display decreased viability and accelerated telomere shortening. We propose that these bi-allelic variants in MCM10 predispose specific cardiac and immune cell lineages to prematurely arrest during differentiation, causing the clinical phenotypes observed in both NKD and RCM patients.
    MeSH term(s) Alleles ; Cardiomyopathies/genetics ; Cell Cycle Proteins/metabolism ; Cell Line ; DNA Replication ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Endonucleases/genetics ; Endonucleases/metabolism ; Humans ; Killer Cells, Natural ; Minichromosome Maintenance Proteins/genetics ; Minichromosome Maintenance Proteins/immunology ; Telomere Shortening
    Chemical Substances Cell Cycle Proteins ; DNA-Binding Proteins ; MCM10 protein, human ; Endonucleases (EC 3.1.-) ; MUS81 protein, human (EC 3.1.-) ; Minichromosome Maintenance Proteins (EC 3.6.4.12)
    Language English
    Publishing date 2021-03-12
    Publishing country England
    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 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-021-21878-x
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  5. Article ; Online: Comparison of monovalent glycoprotein B with bivalent gB/pp65 (GP83) vaccine for congenital cytomegalovirus infection in a guinea pig model: Inclusion of GP83 reduces gB antibody response but both vaccine approaches provide equivalent protection against pup mortality.

    Swanson, Elizabeth C / Gillis, Pete / Hernandez-Alvarado, Nelmary / Fernández-Alarcón, Claudia / Schmit, Megan / Zabeli, Jason C / Wussow, Felix / Diamond, Don J / Schleiss, Mark R

    Vaccine

    2015  Volume 33, Issue 32, Page(s) 4013–4018

    Abstract: Cytomegalovirus (CMV) subunit vaccine candidates include glycoprotein B (gB), and phosphoprotein ppUL83 (pp65). Using a guinea pig cytomegalovirus (GPCMV) model, this study compared immunogenicity, pregnancy outcome, and congenital viral infection ... ...

    Abstract Cytomegalovirus (CMV) subunit vaccine candidates include glycoprotein B (gB), and phosphoprotein ppUL83 (pp65). Using a guinea pig cytomegalovirus (GPCMV) model, this study compared immunogenicity, pregnancy outcome, and congenital viral infection following pre-pregnancy immunization with a three-dose series of modified vaccinia virus Ankara (MVA)-vectored vaccines consisting either of gB administered alone, or simultaneously with a pp65 homolog (GP83)-expressing vaccine. Vaccinated and control dams were challenged at midgestation with salivary gland-adapted GPCMV. Comparisons included ELISA and neutralizing antibody responses, maternal viral load, pup mortality, and congenital infection rates. Strikingly, ELISA and neutralization titers were significantly lower in the gB/GP83 combined vaccine group than in the gB group. However, both vaccines protected against pup mortality (63.2% in controls vs. 11.4% and 13.9% in gB and gB/GP83 combination groups, respectively; p<0.0001). Reductions in pup viral load were noted for both vaccine groups compared to control, but preconception vaccination resulted in a significant reduction in GPCMV transmission only in the monovalent gB group (26/44, 59% v. 27/34, 79% in controls; p<0.05). We conclude that, using the MVA platform, the addition of GP83 to a gB subunit vaccine interferes with antibody responses and diminishes protection against congenital GPCMV infection, but does not decrease protection against pup mortality.
    MeSH term(s) Animals ; Antibodies, Neutralizing/blood ; Antibodies, Viral/blood ; Cytomegalovirus Infections/congenital ; Cytomegalovirus Infections/prevention & control ; Cytomegalovirus Infections/transmission ; Cytomegalovirus Vaccines/administration & dosage ; Cytomegalovirus Vaccines/immunology ; Disease Models, Animal ; Enzyme-Linked Immunosorbent Assay ; Female ; Guinea Pigs ; Infectious Disease Transmission, Vertical/prevention & control ; Neutralization Tests ; Phosphoproteins/immunology ; Pregnancy ; Roseolovirus/immunology ; Survival Analysis ; Treatment Outcome ; Vaccines, Subunit/administration & dosage ; Vaccines, Subunit/immunology ; Viral Envelope Proteins/immunology ; Viral Load ; Viral Matrix Proteins/immunology
    Chemical Substances Antibodies, Neutralizing ; Antibodies, Viral ; Cytomegalovirus Vaccines ; Phosphoproteins ; Vaccines, Subunit ; Viral Envelope Proteins ; Viral Matrix Proteins ; cytomegalovirus matrix protein 65kDa ; glycoprotein B, Simplexvirus
    Language English
    Publishing date 2015-07-31
    Publishing country Netherlands
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 605674-x
    ISSN 1873-2518 ; 0264-410X
    ISSN (online) 1873-2518
    ISSN 0264-410X
    DOI 10.1016/j.vaccine.2015.06.019
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1930: Show issues Location:
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    Zs.MO 458: Show issues

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  6. Article ; Online: Human NK cell deficiency as a result of biallelic mutations in MCM10.

    Mace, Emily M / Paust, Silke / Conte, Matilde I / Baxley, Ryan M / Schmit, Megan M / Patil, Sagar L / Guilz, Nicole C / Mukherjee, Malini / Pezzi, Ashley E / Chmielowiec, Jolanta / Tatineni, Swetha / Chinn, Ivan K / Akdemir, Zeynep Coban / Jhangiani, Shalini N / Muzny, Donna M / Stray-Pedersen, Asbjørg / Bradley, Rachel E / Moody, Mo / Connor, Philip P /
    Heaps, Adrian G / Steward, Colin / Banerjee, Pinaki P / Gibbs, Richard A / Borowiak, Malgorzata / Lupski, James R / Jolles, Stephen / Bielinsky, Anja K / Orange, Jordan S

    The Journal of clinical investigation

    2020  Volume 130, Issue 10, Page(s) 5272–5286

    Abstract: Human natural killer cell deficiency (NKD) arises from inborn errors of immunity that lead to impaired NK cell development, function, or both. Through the understanding of the biological perturbations in individuals with NKD, requirements for the ... ...

    Abstract Human natural killer cell deficiency (NKD) arises from inborn errors of immunity that lead to impaired NK cell development, function, or both. Through the understanding of the biological perturbations in individuals with NKD, requirements for the generation of terminally mature functional innate effector cells can be elucidated. Here, we report a cause of NKD resulting from compound heterozygous mutations in minichromosomal maintenance complex member 10 (MCM10) that impaired NK cell maturation in a child with fatal susceptibility to CMV. MCM10 has not been previously associated with monogenic disease and plays a critical role in the activation and function of the eukaryotic DNA replisome. Through evaluation of patient primary fibroblasts, modeling patient mutations in fibroblast cell lines, and MCM10 knockdown in human NK cell lines, we have shown that loss of MCM10 function leads to impaired cell cycle progression and induction of DNA damage-response pathways. By modeling MCM10 deficiency in primary NK cell precursors, including patient-derived induced pluripotent stem cells, we further demonstrated that MCM10 is required for NK cell terminal maturation and acquisition of immunological system function. Together, these data define MCM10 as an NKD gene and provide biological insight into the requirement for the DNA replisome in human NK cell maturation and function.
    MeSH term(s) Alleles ; Cell Cycle Checkpoints/genetics ; Cell Cycle Checkpoints/immunology ; Cell Differentiation/genetics ; Cell Differentiation/immunology ; Cell Line ; Codon, Nonsense ; DNA Damage/genetics ; DNA Damage/immunology ; Fatal Outcome ; Female ; Gene Knockdown Techniques ; Heterozygote ; Humans ; Induced Pluripotent Stem Cells/immunology ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Infant ; Killer Cells, Natural/immunology ; Killer Cells, Natural/metabolism ; Killer Cells, Natural/pathology ; Male ; Minichromosome Maintenance Proteins/genetics ; Minichromosome Maintenance Proteins/metabolism ; Models, Immunological ; Mutation ; Mutation, Missense ; Pedigree ; Primary Immunodeficiency Diseases/genetics ; Primary Immunodeficiency Diseases/immunology ; Primary Immunodeficiency Diseases/pathology
    Chemical Substances Codon, Nonsense ; MCM10 protein, human ; Minichromosome Maintenance Proteins (EC 3.6.4.12)
    Language English
    Publishing date 2020-08-21
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 3067-3
    ISSN 1558-8238 ; 0021-9738
    ISSN (online) 1558-8238
    ISSN 0021-9738
    DOI 10.1172/JCI134966
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Ua VI Zs.184: Show issues Location:
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