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Title: Global variation in copy number in the human genome
Source:
Nature
URL Source: http://www.nature.com/nature/journa ... 44/n7118/full/nature05329.html
Published: Oct 30, 2006
Author: Richard Redon, et. al.
Post Date: 2009-01-30 14:25:36 by Prefrontal Vortex
Keywords: None
Views: 575
Comments: 23
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
Poster Comment: 12% CNV variation and 30% SNP variation If someone tells you "we're all the same", he's either willfully ignorant or a dishonest scumbag. Individuals may differ from each other in as many as 44% of their genes. The new research wiped out the widespread concept that all humans are genetically 99.9 % alike. Venter was one of the first to advocate this in 2000 after the completion of the first map of the human genome, a project in which he was also involved. But those works significantly underestimated genetic diversity because the whole was the result of DNA samples achieved from several individuals. The new genome, called "HuRef", shows more complex differences than previously detected single nucleotide polymorphisms (SNPs) (changes of just one nucleotide, the building molecular bricks of DNA), which determine simple mutations, once believed to be the main cause of differences in human traits and disease vulnerability. It seems that changes in the previously disregarded "junk DNA" are equally important. "This dispels the notion we had in 2000 and 2001 that we all have exactly the same genes in the human population. It would have been very disturbing if the range of characteristics that we see all came down to a few simple SNP variations," said Venter. Now it appears that individual genome can vary from individual to individual up to 44 % of genes. "This is a number that geneticists and biologists have been wondering about for 50 to 100 years," said co-author Stephen Scherer, a geneticist at The Hospital for Sick Children in Toronto.
Global variation in copy number in the human genome
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Begin Trace Mode for Comment # 22.
#1. To: Prefrontal Vortex (#0)
that is one of the things i have always said. people operate with unproven beliefs. there is actually no proof at all that every one of the inhabitants of the earth is human, they are hominids that appear to be human, but until they are tested, we really don't KNOW if they are. sounds silly, but it is the truth.
What makes a man - genes or soul (for lack of a better word)?
False choice; here's what makes a white man.
If all it takes is a pencil, I'm all set.
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#2. To: gengis gandhi, Prefrontal Vortex (#1)
#4. To: bluegrass (#2)
#19. To: Prefrontal Vortex, bluegrass (#4)
here's what makes a white man.
#22. To: farmfriend (#19)
Replies to Comment # 22.