Innovative Tools for DNA Topology Probing in Human Cells Reveal a Build-Up of Positive Supercoils Following Replication Stress at Telomeres and at the FRA3B Fragile Site.

Autor: Ghilain, Claire¹ (AUTHOR) claireghilain@hotmail.fr, Vidal-Cruchez, Olivia² (AUTHOR) olivia.vidalcruchez@northwestern.edu, Joly, Aurélia³ (AUTHOR) amjoly@ualberta.ca, Debatisse, Michelle⁴ (AUTHOR) michelle.debatisse@gustaveroussy.fr, Gilson, Eric^1,5,6,7 (AUTHOR) eric.gilson@unice.fr, Giraud-Panis, Marie-Josèphe¹ (AUTHOR) eric.gilson@unice.fr

Publikováno v: Cells (2073-4409). Aug2024, Vol. 13 Issue 16, p1361. 17p.

C9orf72 repeat expansion creates the unstable folate-sensitive fragile site FRA9A.

Autor: Mirceta M; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Schmidt MHM; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Shum N; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Prasolava TK; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada., Meikle B; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Lanni S; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada., Mohiuddin M; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada., McKeever PM; Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, M5T 2S8, Canada., Zhang M; Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, M5T 2S8, Canada.; The First Rehabilitation Hospital of Shanghai, Department of Medical Genetics, School of Medicine, Tongji University, Shanghai, 200090, China.; State Key Laboratory of Cardiology and Medical Innovation Center, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, China.; Advanced Study, Tongji University, Shanghai, 200092, China., Liang M; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., van der Werf I; Department of Medical Genetics, University of Antwerp, Belgium., Scheers S; Department of Medical Genetics, University of Antwerp, Belgium., Dion PA; Montreal Neurological Institute-Hospital, McGill University, 3801 University Avenue, Montreal, Quebec, H3A 2B4, Canada.; Department of Neurology and Neurosurgery, McGill University, 3801 University Avenue, Montreal, Quebec, H3A 2B4, Canada., Wang P; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada., Wilson MD; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Abell T; Department of Biology, Tufts University, 200 Boston Avenue, Medford, MA 02155, USA., Philips EA; Department of Biology, Tufts University, 200 Boston Avenue, Medford, MA 02155, USA., Sznajder ŁJ; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, College of Medicine, University of Florida, 2033 Mowry Road, Gainesville, FL 32610-3610, USA.; Department of Chemistry and Biochemistry, University of Nevada, 4003-4505 South Maryland Parkway, Las Vegas, NV 89154, USA., Swanson MS; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, College of Medicine, University of Florida, 2033 Mowry Road, Gainesville, FL 32610-3610, USA., Mehkary M; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Khan M; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Yokoi K; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada., Jung C; BACPAC Resource Center, Children's Hospital Oakland Research Institute, 25129 NE 42nd Pl, Redmond, WA 98053, USA., de Jong PJ; BACPAC Resource Center, Children's Hospital Oakland Research Institute, 25129 NE 42nd Pl, Redmond, WA 98053, USA., Freudenreich CH; Department of Biology, Tufts University, 200 Boston Avenue, Medford, MA 02155, USA., McGoldrick P; Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, M5T 2S8, Canada., Yuen RKC; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada., Abrahão A; Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, North York, Toronto, ON, M4N 3M5, Canada., Keith J; Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, North York, Toronto, ON, M4N 3M5, Canada., Zinman L; Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, North York, Toronto, ON, M4N 3M5, Canada., Robertson J; Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, M5T 2S8, Canada., Rogaeva E; Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto, 60 Leonard Avenue, Toronto, M5T 2S8, Canada., Rouleau GA; Montreal Neurological Institute-Hospital, McGill University, 3801 University Avenue, Montreal, Quebec, H3A 2B4, Canada.; Department of Neurology and Neurosurgery, McGill University, 3801 University Avenue, Montreal, Quebec, H3A 2B4, Canada.; Department of Human Genetics, McGill University, 3801 University Avenue, Montreal, Quebec, H3A 2B4, Canada., Kooy RF; Department of Medical Genetics, University of Antwerp, Belgium., Pearson CE; Program of Genetics and Genome Biology, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON, M3S 1A8, Canada.

Publikováno v: NAR molecular medicine [NAR Mol Med] 2024 Nov 12; Vol. 1 (4), pp. ugae019. Date of Electronic Publication: 2024 Nov 12 (Print Publication: 2024).

Innovative Tools for DNA Topology Probing in Human Cells Reveal a Build-Up of Positive Supercoils Following Replication Stress at Telomeres and at the FRA3B Fragile Site

Autor: Claire Ghilain, Olivia Vidal-Cruchez, Aurélia Joly, Michelle Debatisse, Eric Gilson, Marie-Josèphe Giraud-Panis

Publikováno v: Cells, Vol 13, Iss 16, p 1361 (2024)

Linear unconstrained DNA cannot harbor supercoils since these supercoils can diffuse and be eliminated by free rotation of the DNA strands at the end of the molecule. Mammalian telomeres, despite constituting the ends of linear chromosomes, can hold

Externí odkaz: https://doaj.org/article/fa85c735916948128dec86458f069d40

De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam.

Autor: Ha, Thi Minh Thi^1,2 (AUTHOR) htmthi@huemed-univ.edu.vn, Nguyen, Tran Thao Nguyen³ (AUTHOR), Nguyen, Thi Mai Ngan¹ (AUTHOR), Nguyen, Huu Nguyen⁴ (AUTHOR)

Publikováno v: Molecular Genetics & Genomic Medicine. Apr2021, Vol. 9 Issue 4, p1-6. 6p.

Fragile Site Orthologs FHIT/FRA3B and Fhit/Fra14A2: Evolutionarily Conserved but Highly Recombinogenic

Autor: Matsuyama, Ayumi, Shiraishi, Takeshi, Trapasso, Francesco, Kuroki, Tamotsu, Alder, Hansjuerg, Mori, Masaki, Huebner, Kay, Croce, Carlo M.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2003 Dec 01. 100(25), 14988-14993.

Externí odkaz: https://www.jstor.org/stable/3148548