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Comment
. 2009 Dec;85(6):939-42.
doi: 10.1016/j.ajhg.2009.11.002.

Haplotype background, repeat length evolution, and Huntington's disease

Comment

Haplotype background, repeat length evolution, and Huntington's disease

Daniel Falush. Am J Hum Genet. 2009 Dec.
No abstract available

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Figures

Figure 1
Figure 1
Repeat Length Distribution Evolving in a Simulated Large Population In the simulations on the left-hand side, the population consists initially of three haplotypes, carrying repeats of length 17 (blue), 23 (red), and 32 (green). On the right-hand side, the population consists of three haplotypes with empirical mutation frequencies (blue), five times the mutation rate (red), and five times the mutation rate only for repeat lengths less than 20 (green). Chromosomes with 36 or more repeats are considered to have Huntington's disease (HD), but natural selection acts only on chromosomes with 50 repeats or more, which are removed from the population.

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References

    1. Warby S.C., Montpetit A., Hayden A.R., Carroll J.B., Butland S.L., Visscher H., Collins J.A., Semaka A., Hudson T.J., Hayden M.R. CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am. J. Hum. Genet. 2009;84:351–366. - PMC - PubMed
    1. Falush D., Almqvist E.W., Brinkmann R.R., Iwasa Y., Hayden M.R. Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am. J. Hum. Genet. 2001;68:373–385. - PMC - PubMed
    1. Libby R.T., Hagerman K.A., Pineda V.V., Lau R., Cho D.H., Baccam S.L., Axford M.M., Cleary J.D., Moore J.M., Sopher B.L. CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: A novel basis for mutational hot spot determination. PLoS Genet. 2008;4:e1000257. - PMC - PubMed
    1. Rubinsztein D.C., Amos W., Leggo J., Goodburn S., Ramesar R.S., Old J., Bontrop R., McMahon R., Barton D.E., Ferguson-Smith M.A. Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat. Genet. 1994;7:525–530. - PubMed
    1. Paradisi I., Hernández A., Arias S. Huntington disease mutation in Venezuela: Age of onset, haplotype analyses and geographic aggregation. J. Hum. Genet. 2008;53:127–135. - PubMed

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