Access
This article is part of Nature's premium content.
Published online 27 August 2009 | Nature | doi:10.1038/news.2009.864
News
Human mutation rate revealed
Next-generation sequencing provides the most accurate estimate to date.
Every time human DNA is passed from one generation to the next it accumulates 100–200 new mutations, according to a DNA-sequencing analysis of the Y chromosome.
This number — the first direct measurement of the human mutation rate — is equivalent to one mutation in every 30 million base pairs, and matches previous estimates from species comparisons and rare disease screens.
To read this story in full you will need to login or make a payment (see right).
Comments
Reader comments are usually moderated after posting. If you find something offensive or inappropriate, you can speed this process by clicking 'Report this comment' (or, if that doesn't work for you, email webadmin@nature.com). For more controversial topics, we reserve the right to moderate before comments are published.
Is it only me, or the link to the article really directs to a different paper?
I would think this is the correct one:
http://www.cell.com/current-biology/abstract/S0960-9822%2809%2901454-7
The sample size is very less to arrive at the exact number for the rate of mutation.more such experiments would be necessary. if proved, it has a potential of being one of the fundamental constants of our scientific heritage.
May be I am wrong. 3.0 × 10^−8 mutations/nucleotide equals to one mutation in every 300 million base pairs, not 30 million. Human diploid cell has about 6*10^9 nucleotide. If divided by 3x10^8, it equals to 20 new mutations in one generation.