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Elliott & Elliott: Biochemistry and Molecular Biology 4e

Chapter 28

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The human genome

The Human Genome Project. (1999). Curr. Biol., 9, R908-9.
A summary of the quick-guide type summarizing the project in one and a half pages.

Dennis, C. and Gallagher, R., Eds. (2001). The Human Genome. Nature Publishing Group.

The polymerase chain reaction

Saiki, R. K., et al. (1988). Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science, 239, 487-91 [DOI: 10.1126/science.2448875] [PubMed: 2448875].
Detailed account of the technology of the PCR reaction.

Gene targeting

Melton, D. W. (1994). Gene targeting in the mouse. BioEssays, 16, 633-8 [DOI: 10.1002/bies.950160907] [PubMed: 7980488].
Describes the technology of obtaining knockout mice and discusses its application to study of human diseases.

DNA microarrays

Knight, J. (2001). When the chips are down. Nature, 410, 860-1 [DOI: 10.1038/35073680] [PubMed: 11309581].
A cautionary tale on DNA microarrays

Stoughton, R. B. (2005). Application of DNA microarrays in biology. Annu. Rev. Biochem., 74, 53 [DOI: 10.1146/annurev.biochem.74.082803.133212].

Topol, E. J., Murray, S. H. and Frazer, K. A. (2007). The genomics goldrush. J. Amer. Med. Assoc., 298, 218-21 [DOI: 10.1001/jama.298.2.218].
Deals with the medical potential of using microarray analysis of single nucleotide polymorphisms to make genome-wide profiles of individual patients. The goldrush refers to the enormous activity in this field.

Williams, D. A. and Baum, C. (2003). New challenges ahead. Science, 302, 400-1 [DOI: 10.1126/science.1091258] [PubMed: 14563994].

Stem cells

Karnoub, A. E., Dash, A. B., Vo, A. P., Sullivan, A., Brooks, M. W., Bell, G. W., Richardson, A. L., Polyak, K., Turbo, R. and Weinberg, R. A. (2007). Mesenchymal stem cells within a tumour stroma promote breast cancer metastasis. Nature, 449, 557-65 [DOI: 10.1038/nature06188].

Okita, K., Ichisaka, T. and Yamanaka, S. (2007). Generation of germline - competent induced pluripotent stem cells. Nature, 448, 313-7 [DOI: 10.1038/nature05934] [PubMed: 17554338].

Rossant, J. (2007). The magic brew. Nature, 448, 260-2 [DOI: 10.1038/448260a] [PubMed: 17637646].
The brew is the cocktail of transcription factors used to induce adult skin cells to become plutipotent. A News and Views article summarizing three reports on this subject.

Seandel, M. et al. (2007). Generation of functional multipotent adult stem cells from GPR125+ germline progenitors. Nature, 449, 346-50 [DOI: 10.1038/nature06129] [PubMed: 17882221].
Reports of the isolation from testis of pluripotent stem cells with potential for male therapy.

Wernig, M. et al. (2007). In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state. Nature, 448, 318-24 [DOI: 10.1038/nature05944] [PubMed: 17554336].

Gene therapy

Morgan, R. A. and Anderson, W. E. (1993). Human gene therapy. Annu. Rev. Biochem., 62, 191-217 [DOI: 10.1146/annurev.bi.62.070193.001203].
Deals with the candidate diseases, gene-transfer methods, treatment of adenosine deaminase deficiency, and concludes with safety and ethical questions.

Capechi, M. R. (1994). Targeted gene replacement. Sci. Am., 270(3), 34-41.
Describes gene replacement by homologous recombination and transgenesis techniques.

Anderson, W. E. (1995). Gene therapy. Sci. Am., 273(3), 96-8B.
Includes a list of 14 diseases being tested in clinical trials of gene therapy.

Sunyaer, S. R., et al. (2000). SNP frequencies in human genes: an excess of rare alleles and differing modes of selection. Trends Genet., 16, 335-7 [DOI: 10.1016/S0168-9525(00)02058-8].
(SNP = single nucleotide polymorphism.)

Gene cloning

Gurdon, J. B. and Colman, A. (1999). The future of cloning. Nature, 402, 743-6 [DOI: 10.1038/45429] [PubMed: 10617195].
A special News and Views article describing how Dolly was cloned by nuclear transplantation including discussion of the potential use of stem cell technology for growth of organ transplants, the ethical and legal implications, and the future of cloning.

Vogel, G. (2000). In contrast to Dolly, cloning resets telomere clock in cattle. Science, 288, 586-7 [DOI: 10.1126/science.288.5466.586] [PubMed: 10798984].

Moore, D. W. (2001). Bioinformatics: sequence and genome analysis. Cold Spring Harbor Laboratory Press.

Imarisio, S. et al. (2008). Huntington?s disease: from pathology and genetics to potential therapies. Biochem. J. 412, 191-209 [DOI: 10.1042/BJ20071619] [PubMed: 18466116].
General review of the disease caused by a trinucleotide expansion.