1-18-11 Mutation _ Mutagenesis I

1-18-11 Mutation _ Mutagenesis I - Genetics in the News -...

Info iconThis preview shows pages 1–2. Sign up to view the full content.

View Full Document Right Arrow Icon
Scientific American The 1,000 Genomes Project: Expanding the Map of Human Genetics Researchers hope the effort will speed up the discovery of many diseases's genetic roots . By David Biello 1,000 GENOMES: By sequencing several genomes in depth and hundreds lightly, scientists will create a map of human genetic diversity, which may provide a road map for uncovering the potential genetic roots of disease. The number of sequenced human genomes will soon swell to more than 1,000 as part of a new international research consortium's effort to trace the potential genetic origins of disease. But first the mother, father and adult child of a European- ancestry family from Utah and a Yoruba-ancestry family from Nigeria will join an anonymous individual as well as famous geneticists Craig Venter and James Watson as part of the handful of humans to have on record a complete readout of their roughly three billion pairs of DNA. These six will also each have their genetic codes examined at least 20 times, providing 10 times the accuracy of existing genetic sequences, as well as paving the way for the ambitious effort dubbed the 1,000 Genomes Project, which will comprehensively map humanity's genetic variation. Genetics in the News - Sample The 1,000 Genomes Project (cont.) "The reference sequence that we obtained in 2003 [from the anonymous individual] is just one human genome sequence, but there are six billion humans and it is the sequence of all of us that is important," says project co-chair Richard Durbin of the Wellcome Trust Sanger Institute in Cambridge, England . "We can't get that, but the output of the 1,000 Genomes Project will be a lot closer." The project will proceed in three steps, according to the consortium. The first, currently underway and expected to be completed by year's end, is the detailed scanning of the six individuals. This will be followed by less detailed genome scans of 180 anonymous people from around the world and then partial scans of an additional 1,000 people. "If we look at about 1,000 individuals, we'll get genetic variants in those samples that are somewhere around 1 percent or lower frequency" in the human population, says geneticist Lisa Brooks , director of the Bethesda, Md.–based National Human Genome Research Institute 's Genetic Variation Program. Genetics in the News - Sample Mutation and Mutagenesis Part I January 18, 2011 INTRODUCTION The term mutation refers to a heritable change in the structure of the genetic material, i.e., a change in DNA sequence. Mutations can produce allelic variations On the positive side, mutations are the starting point for evolutionary change. On the negative side, mutations often cause loss of function (and so, many human diseases). Mutations arise from accidents of DNA metabolism,
Background image of page 1

Info iconThis preview has intentionally blurred sections. Sign up to view the full version.

View Full DocumentRight Arrow Icon
Image of page 2
This is the end of the preview. Sign up to access the rest of the document.

Page1 / 9

1-18-11 Mutation _ Mutagenesis I - Genetics in the News -...

This preview shows document pages 1 - 2. Sign up to view the full document.

View Full Document Right Arrow Icon
Ask a homework question - tutors are online