The received wisdom that the “DNA of any two humans is 99.9% similar in content and identity” appears not to be true. "One of the real surprises of these results was just how much of our DNA varies in copy number. We estimate this to be at least 12% of the genome.” "The copy number variation that researchers had seen before was simply the tip of the iceberg, while the bulk lay submerged, undetected. We now appreciate the immense contribution of this phenomenon to genetic differences between individuals."
This raises numerous questions about methodology and those embedded assumptions that are usually completely hidden to those outside the research community. A rethink appears to be needed in two areas:
1. The much heralded claim that human genome is only 3% different from the Chimpanzee. Do we now infer that some of the human population are much closer to Chimps than others? Of course not! Something else of significance is going on here.
2. The concept that the human genome can be documented, with all the variants treated as random mutations. The indication is rather that the genome is much more dynamic than this, and that most of the variations are not random mutations at all. A design perspective has great potential to stimulate new hypotheses.
Global variation in copy number in the human genome
Richard Redon, et al.
Nature 444, 444-454 (23 November 2006) | doi:10.1038/nature05329
Abstract: 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.
See also: Shianna, K.V. and Willard, H.F., Human genomics: In search of normality, Nature 444, 428 (23 November 2006) | doi:10.1038/444428a
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