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      The genetic basis of disease

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          Abstract

          Genetics plays a role, to a greater or lesser extent, in all diseases. Variations in our DNA and differences in how that DNA functions (alone or in combinations), alongside the environment (which encompasses lifestyle), contribute to disease processes. This review explores the genetic basis of human disease, including single gene disorders, chromosomal imbalances, epigenetics, cancer and complex disorders, and considers how our understanding and technological advances can be applied to provision of appropriate diagnosis, management and therapy for patients.

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          Epigenetic modulators, modifiers and mediators in cancer aetiology and progression.

          Andrew Feinberg, Michael Koldobskiy, Anita Göndör (2016)
          This year is the tenth anniversary of the publication in this journal of a model suggesting the existence of 'tumour progenitor genes'. These genes are epigenetically disrupted at the earliest stages of malignancies, even before mutations, and thus cause altered differentiation throughout tumour evolution. The past decade of discovery in cancer epigenetics has revealed a number of similarities between cancer genes and stem cell reprogramming genes, widespread mutations in epigenetic regulators, and the part played by chromatin structure in cellular plasticity in both development and cancer. In the light of these discoveries, we suggest here a framework for cancer epigenetics involving three types of genes: 'epigenetic mediators', corresponding to the tumour progenitor genes suggested earlier; 'epigenetic modifiers' of the mediators, which are frequently mutated in cancer; and 'epigenetic modulators' upstream of the modifiers, which are responsive to changes in the cellular environment and often linked to the nuclear architecture. We suggest that this classification is helpful in framing new diagnostic and therapeutic approaches to cancer.
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            Genomic imprinting in mammals.

            Denise Barlow, Marisa Bartolomei (2014)
            Genomic imprinting affects a subset of genes in mammals and results in a monoallelic, parental-specific expression pattern. Most of these genes are located in clusters that are regulated through the use of insulators or long noncoding RNAs (lncRNAs). To distinguish the parental alleles, imprinted genes are epigenetically marked in gametes at imprinting control elements through the use of DNA methylation at the very least. Imprinted gene expression is subsequently conferred through lncRNAs, histone modifications, insulators, and higher-order chromatin structure. Such imprints are maintained after fertilization through these mechanisms despite extensive reprogramming of the mammalian genome. Genomic imprinting is an excellent model for understanding mammalian epigenetic regulation.
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              Principles of tumor suppression.

              Charles J Sherr (2004)
              Molecular genetic studies of familial cancer syndromes identified and defined the recessive nature of tumor suppressor genes and resolved the paradox of why tumors arising in such families exhibited an autosomally dominant pattern of inheritance. Subsequent characterization of tumor suppressor proteins revealed their widespread involvement in sporadic cancers and pinpointed key mechanisms that protect animals against tumor development. We now recognize that tumor suppressor genes regulate diverse cellular activities, including cell cycle checkpoint responses, detection and repair of DNA damage, protein ubiquitination and degradation, mitogenic signaling, cell specification, differentiation and migration, and tumor angiogenesis. Their study has become a centerpiece of contemporary cancer research.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Essays Biochem
                Journal ID (iso-abbrev): Essays Biochem
                Journal ID (hwp): ppebio
                Journal ID (publisher-id): BSE
                Title: Essays in Biochemistry
                Publisher: Portland Press Ltd.
                ISSN (Print): 0071-1365
                ISSN (Electronic): 1744-1358
                Publication date (Electronic): 03 December 2018
                Publication date Collection: 03 December 2018
                Volume: 62
                Issue: 5
                Pages: 643-723
                Affiliations
                [1 ]School of Medicine, Dentistry and Nursing, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, U.K.
                [2 ]School of Life Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, U.K.
                Author notes
                Correspondence: Gerhard H.W. May ( gerhard.may@ 123456glasgow.ac.uk )
                [*]

                Authors in alphabetical order.

                This article is a reviewed, revised and updated version of the 1999 Biochemistry Across the School Curriculum (BASC) booklet The Genetic Basis of Human Disease by G. Wallis. For further information or to provide feedback on this or other Biochemical Society education resources, contact education@ 123456biochemistry.org .

                Author information
                http://orcid.org/0000-0002-2532-6758
                Article
                DOI: 10.1042/EBC20170053
                PMC ID: 6279436
                PubMed ID: 30509934
                SO-VID: c1565487-3ed3-4aa2-8515-f7900722cce6
                Copyright © © 2018 The Author(s).
                License:

                This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY-NC-ND).

                History
                Date received : 28 June 2018
                Date revision received : 02 October 2018
                Date accepted : 05 October 2018
                Page count
                Pages: 81
                Categories
                Subject: Review Articles
                Subject: Review Article
                Subject: 39
                Subject: 46
                Subject: 12
                Subject: 15
                Subject: 14

                Keywords: cancer,genetics,genomics,molecular basis of health and disease
                Data availability:
                Keywords: cancer, genetics, genomics, molecular basis of health and disease

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