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Basics of Nucleic Acids and Molecular Biology

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Molecular Diagnostics for Dermatology

Abstract

Nucleic acids are essential for all forms of life. Although the structure of the human genome is relatively simple, its function is incredibly complex. The human genome codes for the entire blueprint for an individual. Using the instructions coded by DNA, RNA mediates the processes of transcription and translation to produce protein molecules that carry out cellular functions. These processes are highly regulated in order to produce the right proteins at the right time in the right cells to carry out all of the functions necessary to maintain life.

This chapter reviews basic concepts in molecular biology and nucleic acid chemistry to provide an understanding of the nomenclature and vocabulary required to comprehend molecular testing. The normal structure and cellular functions of nucleic acids are reviewed, providing a foundation for the discussion of molecular methods used in the clinical molecular laboratory. In addition, this chapter begins the discussion of how deviations from normal structure and function result in disease, with special attention given to dermatologic disease.

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References

  1. Avery OT, Macleod CM, McCarty M. Studies on the chemical nature of the substance inducing transformation of pneumococcal types: induction of transformation by a desoxyribonucleic acid fraction isolated from pneumococcus type III. J Exp Med. 1944;79:137–58.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Watson JD, Crick FH. Molecular structure of nucleic acids; a structure for deoxyribose nucleic acid. Nature. 1953;171:737–8.

    Article  CAS  PubMed  Google Scholar 

  3. Vogelstein B, Kinzler KW. The multistep nature of cancer. Trends Genet. 1993;9:138–41.

    Article  CAS  PubMed  Google Scholar 

  4. Shaffer LG, McGowan-Jordan J, Schmid M, editors. An international system for human cytogenetic nomenclature. Basel: S Karger; 2013.

    Google Scholar 

  5. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860–921.

    Article  CAS  PubMed  Google Scholar 

  6. McLean WHI, Moore CBT. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011;20:R189–97.

    Article  CAS  PubMed  Google Scholar 

  7. Miller WL. Use of recombinant DNA technology for the production of polypeptides. Adv Exp Med Biol. 1979;118:153–74.

    Article  CAS  PubMed  Google Scholar 

  8. Ogino S, Gulley ML, Den Dunnen JT, Wilson RB. Standard mutation nomenclature in molecular diagnostics: practical and educational challenges. J Mol Diagn. 2007;9:1–6.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  9. Kunkel TA. Evolving views of DNA replication (in)fidelity. Cold Spring Harb Symp Quant Biol. 2009;74:91–101.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  10. Ikehata H, Ono T. The mechanisms of UV mutagenesis. J Radiat Res. 2011;52:115–25.

    Article  CAS  PubMed  Google Scholar 

  11. Chen L, Hu JY, Wang SQ. The role of antioxidants in photoprotection: a critical review. J Am Acad Dermatol. 2012;67:1013–24.

    Article  CAS  PubMed  Google Scholar 

  12. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009;76:1–18.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  13. Dworaczek H, Xiao W. Xeroderma pigmentosum: a glimpse into nucleotide excision repair, genetic instability, and cancer. Crit Rev Oncog. 2007;13:159–77.

    Article  PubMed  Google Scholar 

  14. Murray ML, Cerrato F, Bennett RL, Jarvik GP. Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med. 2011;13:998–1005.

    Article  CAS  PubMed  Google Scholar 

  15. Kamoun M, Williams TM. No title. In: Leonard DGB, editor. Molecular pathology in clinical practice. New York: Springer; 2007. p. 541–50.

    Chapter  Google Scholar 

  16. Erlich H. HLA DNA, typing: past, present, and future. Tissue Antigens. 2012;80:1–11.

    Article  CAS  PubMed  Google Scholar 

  17. Murphy KM. Chimerism analysis following hematopoietic stem cell transplantation. Methods Mol Biol. 2013;999:137–49.

    Article  PubMed  Google Scholar 

  18. Evans WE, Relling MV. Moving towards individualized medicine with pharmacogenomics. Nature. 2004;429:464–8.

    Article  CAS  PubMed  Google Scholar 

  19. Mitchell RJ, Farrington SM, Dunlop MG, Campbell H. Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. Am J Epidemiol. 2002;156:885–902.

    Article  CAS  PubMed  Google Scholar 

  20. Ward KA, Lazovich D, Hordinsky MK. Germline melanoma susceptibility and prognostic genes: a review of the literature. J Am Acad Dermatol. 2012;67:1055–67.

    Article  PubMed  Google Scholar 

  21. Vogelstein B, Papadopoulos N, Velculescu VE, Zhou S, Diaz LA, Kinzler KW. Cancer genome landscapes. Science. 2013;339:1546–58.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  22. Wood LD, Parsons DW, Jones S, Lin J, Sjöblom T, Leary RJ, et al. The genomic landscapes of human breast and colorectal cancers. Science. 2007;318:1108–13.

    Article  CAS  PubMed  Google Scholar 

  23. Pfeifer GP, Besaratinia A. Mutational spectra of human cancer. Hum Genet. 2009;125:493–506.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  24. Cadet J, Sage E, Douki T. Ultraviolet radiation-mediated damage to cellular DNA. Mutat Res. 2005;571:3–17.

    Article  CAS  PubMed  Google Scholar 

  25. Narayanan DL, Saladi RN, Fox JL. Ultraviolet radiation and skin cancer. Int J Dermatol. 2010;49: 978–86.

    Article  PubMed  Google Scholar 

  26. Chen LL, Wang SQ. From the bottle to the skin: challenges in evaluating antioxidants. Photodermatol Photoimmunol Photomed. 2012;28:228–34.

    Article  CAS  PubMed  Google Scholar 

  27. Parsons DW, Li M, Zhang X, Jones S, Leary RJ, Lin JC-H, et al. The genetic landscape of the childhood cancer medulloblastoma. Science. 2011;331:435–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

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© 2014 Springer-Verlag Berlin Heidelberg

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Hosler, G.A., Murphy, K.M. (2014). Basics of Nucleic Acids and Molecular Biology. In: Molecular Diagnostics for Dermatology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54066-0_2

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  • DOI: https://doi.org/10.1007/978-3-642-54066-0_2

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-54065-3

  • Online ISBN: 978-3-642-54066-0

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