All About Mutations
Part 14

What it means to have a mutation and what role mutations play in Huntington’s disease.

A Final Note

The discussions of the previous questions have included many citations of very intriguing research. Some of the studies produced results that are contradictory to others. Still more studies are so cutting-edge that they lack the test of time to see if in fact their results are substantiated. Though they shed light on so many different aspects of HD, the common thread in each of the studies is that they have shown how incredibly devoted researchers are to getting to the bottom of this disease. Hopefully, this devotion and the world of ingenuity in the research community will continue to allow the development of better and better treatments for HD. One day, they may even find the cure.

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-M. Stenerson, 1-31-02

For further reading:

1. Bundey. "New mutations in Huntington's chorea." J. Med. Genet. 20: 76-77, 1983.
   An intellectual letter to the journal regarding the author’s belief about the frequency of HD cases that cannot be explained by family history.
2. Burns, George W. and Bottingo, Paul J. The Science Of Genetics. New York: Macmillan Publishing Company, 1989. p. 189.
   A highly technical page explaining the science behind albinism. Not related to HD.
3. Durham, William H. Coevolution. Stanford: Stanford University Press, 1991. pp. 226-285.
   A fairly technical but very interesting chapter about lactose absorption. Not related to HD.
4. Fishel, et. al. "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer." Cell. 75: 1027-1038, 1993.
   A very technical paper regarding MSH2. Only indirectly related to HD.
5. Kovtun, I. V.; Therneau, T. M.; McMurray, C. T. "Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene." Hum. Molec. Genet. 9: 2767-2775, 2000.
   A technical paper regarding how gender plays a role in HD.
6. Kovtun, I. V.; McMurray, C. T. "Trinucleotide expansion in haploid germ cells by gap repair." Nature Genet. 27: 407-411, 2001.
   A technical paper regarding a new perspective on when expansion actually takes place.
7. Leeflang, E. P., et al. "Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum." Hum. Molec. Genet. 4: 1519-1526, 1995.
   A technical paper regarding the frequency with which mutations occur when parents have a specified number of CAGs.
8. McMurray, CT. "Mechanisms of DNA Expansion." Chromosoma 104(1): 2-13, Oct 1995.
   A highly technical paper regarding the popular ideas about how expansion occurs. Polymerase slippage and unequal crossing over are explained in depth.
9. Purves, William K., et al. Life: The Science of Biology. Sunderland, Massachusetts: Sinauer Associates, Inc., 1998. pp. 252-258, 277-279.
   Educational (textbook) pages regarding DNA replication and mutations.
10. Ranen, N. G., et al. "Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease." Am. J. Hum. Genet. 57: 593-602, 1995.
    A highly technical paper regarding paternal transmission of juvenile HD.
11. Richard, Guy-Franck and Paques, Frederic. "Mini- and microsatellite expansions: the recombination connection." EMBO. vol. 1, no. 2: 122-126, 2000.
    A highly technical paper regarding a mutation model similar to unequal crossing over (called genetic recombination).
12. Richards, RI and Sutherland, GR. "Dynamic mutation: possible mechanisms and significance in human disease." Trends Biochem Sci. 22(11): 432-436, Nov 1997.
    A technical paper regarding the many proposed mechanisms of expansion in human disease.
13. Trottier, Y.; Biancalana, V.; Mandel, J.-L. "Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset." J. Med. Genet. 31: 377-382, 1994.
    A technical paper regarding expansion as seen in both paternal and maternal transmission of HD.
14. Zuhlke, C., et al. "Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene." Hum. Molec. Genet. 2: 2063-2067, 1993.
    Like #13, a technical paper regarding expansion as seen in both paternal and maternal transmission of HD.

Last Modified: 1-28-04

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