Featured Research

from universities, journals, and other organizations

We are all mutants: First direct whole-genome measure of human mutation predicts 60 new mutations in each of us

Date:
June 13, 2011
Source:
Wellcome Trust Sanger Institute
Summary:
How many new mutations does a child have and did most of them come from mum or dad? The first answer is that each of us typically receives 60 new mutations from our parents. Remarkably, the number of mutations passed on from a parent to a child varies between parents by as much as tenfold. These striking answers come from the first-ever direct measure of new mutations using whole human genomes.

Estimated numbers of new mutations in two families. Each lightning bolt represents one new mutation found in the child: mutations from Dad are in orange, from Mum in green.
Credit: Genome Research Limited

Each one of us receives approximately 60 new mutations in our genome from our parents. This striking value is reported in the first-ever direct measure of new mutations coming from mother and father in whole human genomes.

Related Articles


For the first time, researchers have been able to answer the questions: how many new mutations does a child have and did most of them come from mum or dad? The researchers measured directly the numbers of mutations in two families, using whole genome sequences from the 1000 Genomes Project. The results also reveal that human genomes, like all genomes, are changed by the forces of mutation: our DNA is altered by differences in its code from that of our parents. Mutations that occur in sperm or egg cells will be 'new' mutations not seen in our parents.

Although most of our variety comes from reshuffling of genes from our parents, new mutations are the ultimate source from which new variation is drawn. Finding new mutations is extremely technically challenging as, on average, only 1 in every 100 million letters of DNA is altered each generation.

Previous measures of the mutation rate in humans has either averaged across both sexes or measured over several generations. There has been no measure of the new mutations passed from a specific parent to a child among multiple individuals or families.

"We human geneticists have theorised that mutation rates might be different between the sexes or between people," explains Dr Matt Hurles, Senior Group Leader at the Wellcome Trust Sanger Institute, who co-led the study with scientists at Montreal and Boston, "We know now that, in some families, most mutations might arise from the mother, in others most will arise from the father. This is a surprise: many people expected that in all families most mutations would come from the father, due to the additional number of times that the genome needs to be copied to make a sperm, as opposed to an egg."

Professor Philip Awadalla,who also co-led the project and is at University of Montreal explained: "Today, we have been able to test previous theories through new developments in experimental technologies and our analytical algorithms. This has allowed us to find these new mutations, which are like very small needles in a very large haystack."

The unexpected findings came from a careful study of two families consisting of both parents and one child. The researchers looked for new mutations present in the DNA from the children that were absent from their parents' genomes. They looked at almost 6000 possible mutations in the genome sequences.

They sorted the mutations into those that occurred during the production of sperm or eggs of the parents and those that may have occurred during the life of the child: it is the mutation rate in sperm or eggs that is important in evolution. Remarkably, in one family 92 per cent of the mutations derived from the father, whereas in the other family only 36 per cent were from the father.

This fascinating result had not been anticipated, and it raises as many questions as it answers. In each case, the team looked at a single child and so cannot tell from this first study whether the variation in numbers of new mutations is the result of differences in mutation processes between parents, or differences between individual sperm and eggs within a parent.

Using the new techniques and algorithms, the team can look at more families to answer these new riddles, and address such issues as the impact of parental age and different environment exposures on rates of new mutations, which might concern any would-be parent.

Equally remarkably, the number of mutations passed on from a parent to a child varied between parents by as much as tenfold. A person with a high natural mutation rate might be at greater risk of misdiagnosis of a genetic disease because the samples used for diagnosis might contain mutations that are not present in other cells in their body: most of their cells would be unaffected.


Story Source:

The above story is based on materials provided by Wellcome Trust Sanger Institute. Note: Materials may be edited for content and length.


Journal Reference:

  1. Donald F Conrad, Jonathan E M Keebler, Mark A DePristo, Sarah J Lindsay, Yujun Zhang, Ferran Casals, Youssef Idaghdour, Chris L Hartl, Carlos Torroja, Kiran V Garimella, Martine Zilversmit, Reed Cartwright, Guy A Rouleau, Mark Daly, Eric A Stone, Matthew E Hurles, Philip Awadalla. Variation in genome-wide mutation rates within and between human families. Nature Genetics, 2011; DOI: 10.1038/ng.862

Cite This Page:

Wellcome Trust Sanger Institute. "We are all mutants: First direct whole-genome measure of human mutation predicts 60 new mutations in each of us." ScienceDaily. ScienceDaily, 13 June 2011. <www.sciencedaily.com/releases/2011/06/110613012758.htm>.
Wellcome Trust Sanger Institute. (2011, June 13). We are all mutants: First direct whole-genome measure of human mutation predicts 60 new mutations in each of us. ScienceDaily. Retrieved March 5, 2015 from www.sciencedaily.com/releases/2011/06/110613012758.htm
Wellcome Trust Sanger Institute. "We are all mutants: First direct whole-genome measure of human mutation predicts 60 new mutations in each of us." ScienceDaily. www.sciencedaily.com/releases/2011/06/110613012758.htm (accessed March 5, 2015).

Share This


More From ScienceDaily



More Plants & Animals News

Thursday, March 5, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Praying Mantis Looks Long Before It Leaps

Praying Mantis Looks Long Before It Leaps

Reuters - Innovations Video Online (Mar. 5, 2015) Slowed-down footage of the leaps of praying mantises show the insect&apos;s extraordinary precision, say researchers. Video provided by Reuters
Powered by NewsLook.com
Octopus Grabs Camera and Turns It Around On Photographer

Octopus Grabs Camera and Turns It Around On Photographer

Buzz60 (Mar. 5, 2015) A photographer got the shot of a lifetime, or rather an octopus did, when it grabbed the camera and turned it around to take an amazing picture of the photographer. Jen Markham (@jenmarkham) has the story. Video provided by Buzz60
Powered by NewsLook.com
Ringling Bros. Eliminating Elephant Acts

Ringling Bros. Eliminating Elephant Acts

AP (Mar. 5, 2015) The Ringling Bros. and Barnum & Bailey Circus is ending its iconic elephant acts. The circus&apos; parent company, Feld Entertainment, told the AP exclusively that the acts will be phased out by 2018 over growing public concern about the animals. (March 5) Video provided by AP
Powered by NewsLook.com
Raw: Tourists Visit Rare Grey Whales in Mexico

Raw: Tourists Visit Rare Grey Whales in Mexico

AP (Mar. 4, 2015) Once nearly extinct, grey whales now migrate in their thousands to Mexico&apos;s Vizcaino reserve in Baja California, in search of warmer waters to mate and give birth. Tourists flock to the reserve to see the whales, measuring up to 49 feet long. (March 4) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Plants & Animals

Earth & Climate

Fossils & Ruins

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins