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Nature 444, 130-131 (9 November 2006) | doi:10.1038/444130a; Published online 8 November 2006
It’s the junk that makes us human!
Erika Check
‘Non-coding’ DNA may organize brain cell connections.
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Next big thing
December 19, 2006Global variation in copy number in the human genome
November 27, 2006Nature 444, 444-454 (23 November 2006) | doi:10.1038/nature05329; Received 13 June 2006; Accepted 10 October 2006
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.
