Genomic and functional variation of human centromeres

Autor: Lori L. Sullivan, Beth A. Sullivan

Publikováno v: Exp Cell Res

Centromeres are central to chromosome segregation and genome stability, and thus their molecular foundations are important for understanding their function and the ways in which they go awry. Human centromeres typically form at large megabase-sized a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4bd32106de81c395b1e028cae6106e6
https://pubmed.ncbi.nlm.nih.gov/32035947

α satellite DNA variation and function of the human centromere

Autor: Kimberline Chew, Lori L. Sullivan, Beth A. Sullivan

Publikováno v: Nucleus. 8:331-339

Genomic variation is a source of functional diversity that is typically studied in genic and non-coding regulatory regions. However, the extent of variation within noncoding portions of the human genome, particularly highly repetitive regions, and th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::742c846bd97547268351037221ff69b1
https://doi.org/10.1080/19491034.2017.1308989

Genomic variation within alpha satellite DNA influences centromere location on human chromosomes with metastable epialleles

Autor: Molly E. Kuo, Beth A. Sullivan, Kimberline Chew, Lori L. Sullivan, Megan E. Aldrup-MacDonald

Publikováno v: Genome research. 26(10)

Alpha satellite is a tandemly organized type of repetitive DNA that comprises 5% of the genome and is found at all human centromeres. A defined number of 171-bp monomers are organized into chromosome-specific higher-order repeats (HORs) that are reit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1669eb0f8b0183bbac35812e5c6ceda7
https://pubmed.ncbi.nlm.nih.gov/27510565

Genomic size of CENP-A domain is proportional to total alpha satellite array size at human centromeres and expands in cancer cells

Autor: Christopher D. Boivin, Lori L. Sullivan, Ihn Young Song, Beth A. Sullivan, Brankica Mravinac

Publikováno v: Chromosome Research. 19:457-470

Human centromeres contain multi-megabase-sized arrays of alpha satellite DNA, a family of satellite DNA repeats based on a tandemly arranged 171 bp monomer. The centromere-specific histone protein CENP-A is assembled on alpha satellite DNA within the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b6bbe5804ff268f322d9ebf42f2916f
https://doi.org/10.1007/s10577-011-9208-5

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.

Autor: Malka S; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK., Biswas P; Shiley Eye Institute, University of California, San Diego, San Diego, CA, USA., Berry AM; Shiley Eye Institute, University of California, San Diego, San Diego, CA, USA., Sangermano R; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Ullah M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland., Lin S; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK., D'Antonio M; Department of Medicine, Division of Biomedical Informatics, University of California, San Diego, La Jolla, CA, USA., Jestin A; UCL Institute of Ophthalmology, University College London, London, UK., Jiao X; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Sullivan L; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX, USA., Gardner JC; UCL Institute of Ophthalmology, University College London, London, UK., Place EM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Michaelides M; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK., Kaminska K; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland., Mahroo OA; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK; Department of Ophthalmology, St Thomas' Hospital, London, UK; Section of Ophthalmology, King's College London, St Thomas' Hospital Campus, London, UK., Schiff E; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK., Wright G; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK., Cancellieri F; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland., Vaclavik V; Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland., Santos C; Instituto de Oftalmologia Dr. Gama Pinto (IOGP), Lisboa, Portugal; Faculdade de Ciências Médicas, NMS, FCM, NOVA Medical School, Universidade NOVA de Lisboa, 7 iNOVA4Health, Lisboa, Portugal., Rehman AU; Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra 21300, Khyber Pakhtunkhwa, Pakistan., Mehrotra S; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Azhar Baig HM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Iqbal M; Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur 63100, Pakistan., Ansar M; Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi 74200, Pakistan., Santos LC; Instituto de Oftalmologia Dr. Gama Pinto (IOGP), Lisboa, Portugal., Sousa AB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Lisboa Norte (CHULN), Lisboa, Portugal; Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Lisboa, Portugal., Tran VH; Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK., Matsui H; Shiley Eye Institute, University of California, San Diego, San Diego, CA, USA., Bhatia A; Shiley Eye Institute, University of California, San Diego, San Diego, CA, USA., Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Akram SJ; Akram Medical Complex, Lahore, Pakistan., Akram J; Allama Iqbal Medical Research Center, Lahore, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Jinnah Hospital, Lahore, Pakistan., Riazuddin S; Jinnah Burn and Reconstructive Surgery Center, Jinnah Hospital, Lahore, Pakistan; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain., Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, UK., Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Frazer KA; Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA; Institute of Genomic Medicine, University of California, San Diego, La Jolla, CA, USA., Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Arno G; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK; Greenwood Genetic Center, Greenwood, SC, USA., Webster AR; Moorfields Eye Hospital NHS Trust, London, UK; UCL Institute of Ophthalmology, University College London, London, UK. Electronic address: andrew.webster@ucl.ac.uk., Ayyagari R; Shiley Eye Institute, University of California, San Diego, San Diego, CA, USA. Electronic address: rayyagari@health.ucsd.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Sep 05; Vol. 111 (9), pp. 2012-2030. Date of Electronic Publication: 2024 Aug 26.